Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10111
Gene name	RAD50 double strand break repair protein
Gene symbol	RAD50
Synonyms (NCBI Gene)	NBSLDRAD502hRad50
Chromosome	5
Chromosome location	5q31.1
Summary	The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28903084	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs28903085	A>C,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs28903086	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, missense variant
rs28903088	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs28903090	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs28903091	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Coding sequence variant, missense variant
rs61749630	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs104895046	C>T	Pathogenic, not-provided	Coding sequence variant, stop gained
rs113018012	T>A,C	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs121912628	C>G,T	Pathogenic, uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs138749920	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs141989813	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142947311	C>T	Pathogenic	Stop gained, coding sequence variant
rs143189763	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, missense variant
rs146370443	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147366706	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs149201802	C>G,T	Pathogenic, likely-benign, benign	Coding sequence variant, stop gained, synonymous variant
rs150030986	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs181016343	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs181961360	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199867309	A>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs200017020	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs202047873	A>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs368980595	C>A,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs370769989	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs373428259	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs374561375	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs375264148	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377429225	C>T	Pathogenic	Coding sequence variant, stop gained
rs397507177	C>T	Pathogenic	Coding sequence variant, stop gained
rs397507178	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs549559726	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs558302979	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs587780147	GATAAGA>-,GATAAGAGATAAGA	Pathogenic	Coding sequence variant, stop gained, inframe indel, frameshift variant
rs587780150	C>T	Pathogenic	Coding sequence variant, stop gained
rs587780153	GAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587780154	GAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587780155	CAGA>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs587781327	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587781355	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs587781454	->T	Pathogenic	Coding sequence variant, frameshift variant
rs587781576	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs587781721	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587781742	G>A,T	Likely-pathogenic	Splice acceptor variant
rs587781904	C>A	Pathogenic	Coding sequence variant, stop gained
rs587781930	TCAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587782078	G>A	Likely-pathogenic	Splice donor variant
rs587782090	G>T	Pathogenic	Coding sequence variant, stop gained
rs587782543	->A	Pathogenic	Coding sequence variant, frameshift variant
rs587782895	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs747951988	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs748536322	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant
rs749466673	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs753905518	->C	Pathogenic	Frameshift variant, coding sequence variant
rs753950483	T>-	Pathogenic	Stop gained, coding sequence variant
rs758641567	C>T	Pathogenic	Stop gained, coding sequence variant
rs760146707	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs762648843	G>A,C	Likely-pathogenic	Splice donor variant
rs764122619	T>C	Likely-pathogenic	Splice donor variant
rs764449224	G>T	Pathogenic	Coding sequence variant, stop gained
rs764968413	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs765484171	G>T	Likely-pathogenic	Splice donor variant
rs765975825	C>T	Pathogenic	Coding sequence variant, stop gained
rs766315644	C>A,T	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs768522804	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs769047012	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs770082735	->T	Pathogenic	Coding sequence variant, frameshift variant
rs771855778	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs772468452	C>T	Pathogenic	Coding sequence variant, stop gained
rs773761143	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs775069541	T>A,G	Pathogenic	Coding sequence variant, stop gained
rs776276760	C>G	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs776395588	T>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs777678214	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs780230934	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs786201531	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs786201702	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs786201789	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs786201897	->A	Pathogenic	Coding sequence variant, frameshift variant
rs786202187	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203151	ACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203403	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs786203485	C>A,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs786203655	GAGA>-,GAGAGA	Pathogenic	Coding sequence variant, frameshift variant
rs786203805	G>A,C,T	Likely-pathogenic	Splice donor variant
rs863224509	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs864622393	CTGCAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs876658213	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs876658784	G>A,T	Likely-pathogenic	Splice acceptor variant
rs876658976	->T	Pathogenic	Coding sequence variant, frameshift variant
rs876659005	->A	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs876659132	G>T	Pathogenic	Coding sequence variant, stop gained
rs876659158	GTAAG>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs876659255	TC>A	Pathogenic	Coding sequence variant, frameshift variant
rs876659837	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs876659971	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs876660039	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs876660160	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs876660281	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs876660364	A>T	Pathogenic	Coding sequence variant, stop gained
rs876660728	A>G	Likely-pathogenic	Splice acceptor variant
rs876660797	C>T	Pathogenic	Coding sequence variant, stop gained
rs876660957	A>C	Likely-pathogenic	Splice acceptor variant
rs878854795	->A	Pathogenic	Coding sequence variant, frameshift variant
rs878854797	AGAAAGAA>T	Pathogenic	Coding sequence variant, frameshift variant
rs947142407	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs980964237	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060501923	TATT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501936	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs1060501941	CACA>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1060501942	CTTAA>-	Pathogenic	Stop gained, coding sequence variant
rs1060501949	AAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501954	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501970	A>C	Likely-pathogenic	Splice acceptor variant
rs1060501973	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064792948	TCAAGAAGAT>AA	Pathogenic	Coding sequence variant, frameshift variant
rs1211207020	GACATAGAAGAAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1233081327	C>T	Pathogenic	Coding sequence variant, stop gained
rs1235022794	ACAAAG>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1236278956	G>A	Likely-pathogenic	Splice acceptor variant
rs1247689593	C>G,T	Uncertain-significance, likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs1253904315	A>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1272811865	TAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1281337925	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1297931573	G>-	Pathogenic	Stop gained, coding sequence variant
rs1356107538	G>C	Likely-pathogenic	Splice donor variant
rs1388500583	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1446519890	G>C,T	Likely-pathogenic	Intron variant
rs1458900761	->T,TT	Pathogenic	Coding sequence variant, frameshift variant, stop gained
rs1554096791	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554097755	A>G	Likely-pathogenic	Splice acceptor variant
rs1554097758	GTCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554097816	T>-	Pathogenic	Coding sequence variant, stop gained
rs1554097840	GGT>TG	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1554098156	G>C	Likely-pathogenic	Splice acceptor variant
rs1554098191	ACAGGTTTT>CAAATAAA	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs1554098203	AGAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554098250	CAGA>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554098251	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1554098262	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554098316	TAAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554098326	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554098333	->GA	Pathogenic	Coding sequence variant, frameshift variant
rs1554098466	A>G	Likely-pathogenic	Splice acceptor variant
rs1554098484	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554098584	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554098588	AAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554098589	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554098661	->GCCA	Pathogenic	Coding sequence variant, splice acceptor variant
rs1554098662	G>A	Likely-pathogenic	Splice acceptor variant
rs1554098683	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554098706	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554099081	A>T	Pathogenic	Coding sequence variant, stop gained
rs1554099106	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554099112	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554099320	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554099356	A>C	Likely-pathogenic	Splice acceptor variant
rs1554099372	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554099388	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554099774	A>G	Likely-pathogenic	Splice acceptor variant
rs1554099776	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554099781	ACTT>-	Pathogenic	Coding sequence variant, stop gained
rs1554099864	T>A,G	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs1554099874	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1554099888	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561628206	A>G	Likely-pathogenic	Splice acceptor variant
rs1561634357	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1561635887	->TA	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1561639636	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1561640129	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1561641010	->GAAC	Pathogenic	Frameshift variant, coding sequence variant
rs1561641132	C>T	Pathogenic	Stop gained, coding sequence variant
rs1561642039	AGAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561647410	G>T	Pathogenic	Stop gained, coding sequence variant
rs1561647533	C>T	Pathogenic	Stop gained, coding sequence variant
rs1561647559	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561650088	G>T	Pathogenic	Stop gained, coding sequence variant
rs1580985027	ATGTCAATGGAGAACTTATAGCTGTGCAAAGATCTATGGTGTGTACTCAGAAAAGCAAAAAGACAGAATTTAAAACTCTGGAAGGAGTCATTACTAGAACAAAGTAGGTGTTTATATGATATTTGAATTTCTGTTCATTTTCAGTCTTTT>CAAAAAGAC	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1580987151	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580987185	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580987375	T>A,C	Likely-pathogenic	Splice donor variant
rs1580987596	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580987780	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580987798	AT>-	Pathogenic	Coding sequence variant, stop gained
rs1580991792	->TCTA	Pathogenic	Coding sequence variant, frameshift variant
rs1580992079	G>C	Likely-pathogenic	Splice acceptor variant
rs1580992089	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580992265	TAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580992695	C>T	Pathogenic	Coding sequence variant, stop gained
rs1580992906	C>T	Pathogenic	Coding sequence variant, stop gained
rs1580993390	AGAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580993404	GAGAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580993516	A>T	Pathogenic	Coding sequence variant, stop gained
rs1580993525	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1580994859	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580996388	G>T	Pathogenic	Coding sequence variant, stop gained
rs1580996563	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580996988	->GTCA	Pathogenic	Coding sequence variant, frameshift variant
rs1580997021	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1580997203	GG>CT	Pathogenic	Coding sequence variant, stop gained
rs1581001575	G>T	Likely-pathogenic	Splice donor variant
rs1581002180	C>T	Pathogenic	Coding sequence variant, stop gained
rs1581004275	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581004664	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581004749	G>A	Likely-pathogenic	Splice donor variant
rs1581004875	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1581008368	C>T	Pathogenic	Coding sequence variant, stop gained
rs1581009347	A>T	Pathogenic	Coding sequence variant, stop gained
rs1581009466	GA>-	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT721982	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT721981	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT721980	hsa-miR-604	HITS-CLIP	19536157
MIRT721979	hsa-miR-6762-3p	HITS-CLIP	19536157
MIRT721978	hsa-miR-485-3p	HITS-CLIP	19536157
MIRT721977	hsa-miR-539-3p	HITS-CLIP	19536157
MIRT721976	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT721975	hsa-miR-647	HITS-CLIP	19536157
MIRT721974	hsa-miR-6842-3p	HITS-CLIP	19536157
MIRT721973	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT721972	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT721971	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT721970	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT454893	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT454892	hsa-miR-4496	PAR-CLIP	23592263
MIRT454891	hsa-miR-5584-5p	PAR-CLIP	23592263
MIRT454890	hsa-miR-7113-5p	PAR-CLIP	23592263
MIRT454889	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT454888	hsa-miR-4784	PAR-CLIP	23592263
MIRT454887	hsa-miR-4261	PAR-CLIP	23592263
MIRT454886	hsa-miR-5093	PAR-CLIP	23592263
MIRT454885	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT454883	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT454884	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT454882	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT454881	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT454880	hsa-miR-4689	PAR-CLIP	23592263
MIRT454879	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT439828	hsa-miR-544a	HITS-CLIP	24374217
MIRT439828	hsa-miR-544a	HITS-CLIP	24374217
MIRT721982	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT721981	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT721980	hsa-miR-604	HITS-CLIP	19536157
MIRT721979	hsa-miR-6762-3p	HITS-CLIP	19536157
MIRT721978	hsa-miR-485-3p	HITS-CLIP	19536157
MIRT721977	hsa-miR-539-3p	HITS-CLIP	19536157
MIRT721976	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT721975	hsa-miR-647	HITS-CLIP	19536157
MIRT721974	hsa-miR-6842-3p	HITS-CLIP	19536157
MIRT721973	hsa-miR-4768-5p	HITS-CLIP	19536157
MIRT721972	hsa-miR-6833-3p	HITS-CLIP	19536157
MIRT721971	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT721970	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT454893	hsa-miR-1252-3p	PAR-CLIP	23592263
MIRT454892	hsa-miR-4496	PAR-CLIP	23592263
MIRT454891	hsa-miR-5584-5p	PAR-CLIP	23592263
MIRT454890	hsa-miR-7113-5p	PAR-CLIP	23592263
MIRT454889	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT454888	hsa-miR-4784	PAR-CLIP	23592263
MIRT454887	hsa-miR-4261	PAR-CLIP	23592263
MIRT454886	hsa-miR-5093	PAR-CLIP	23592263
MIRT454885	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT454883	hsa-miR-4640-5p	PAR-CLIP	23592263
MIRT454884	hsa-miR-4726-5p	PAR-CLIP	23592263
MIRT454882	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT454881	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT454880	hsa-miR-4689	PAR-CLIP	23592263
MIRT454879	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT1287913	hsa-miR-1243	CLIP-seq
MIRT1287914	hsa-miR-1290	CLIP-seq
MIRT1287915	hsa-miR-1298	CLIP-seq
MIRT1287916	hsa-miR-1323	CLIP-seq
MIRT1287917	hsa-miR-149	CLIP-seq
MIRT1287918	hsa-miR-24	CLIP-seq
MIRT1287919	hsa-miR-2682	CLIP-seq
MIRT1287920	hsa-miR-3064-5p	CLIP-seq
MIRT1287921	hsa-miR-3143	CLIP-seq
MIRT1287922	hsa-miR-3146	CLIP-seq
MIRT1287923	hsa-miR-3150a-5p	CLIP-seq
MIRT1287924	hsa-miR-3150b-5p	CLIP-seq
MIRT1287925	hsa-miR-3167	CLIP-seq
MIRT1287926	hsa-miR-345	CLIP-seq
MIRT1287927	hsa-miR-3667-5p	CLIP-seq
MIRT1287928	hsa-miR-4251	CLIP-seq
MIRT1287929	hsa-miR-4257	CLIP-seq
MIRT1287930	hsa-miR-4284	CLIP-seq
MIRT1287931	hsa-miR-4307	CLIP-seq
MIRT1287932	hsa-miR-4427	CLIP-seq
MIRT1287933	hsa-miR-449c	CLIP-seq
MIRT1287934	hsa-miR-4514	CLIP-seq
MIRT1287935	hsa-miR-4522	CLIP-seq
MIRT1287936	hsa-miR-4645-5p	CLIP-seq
MIRT1287937	hsa-miR-4673	CLIP-seq
MIRT1287938	hsa-miR-4676-5p	CLIP-seq
MIRT1287939	hsa-miR-4679	CLIP-seq
MIRT1287940	hsa-miR-4680-3p	CLIP-seq
MIRT1287941	hsa-miR-4692	CLIP-seq
MIRT1287942	hsa-miR-4699-3p	CLIP-seq
MIRT1287943	hsa-miR-4714-5p	CLIP-seq
MIRT1287944	hsa-miR-4786-3p	CLIP-seq
MIRT1287945	hsa-miR-4794	CLIP-seq
MIRT1287946	hsa-miR-539	CLIP-seq
MIRT1287947	hsa-miR-543	CLIP-seq
MIRT1287948	hsa-miR-548o	CLIP-seq
MIRT1287949	hsa-miR-575	CLIP-seq
MIRT1287950	hsa-miR-618	CLIP-seq
MIRT1287951	hsa-miR-622	CLIP-seq
MIRT1287952	hsa-miR-664	CLIP-seq
MIRT1287953	hsa-miR-876-5p	CLIP-seq
MIRT2085253	hsa-miR-122	CLIP-seq
MIRT2085254	hsa-miR-1253	CLIP-seq
MIRT2085255	hsa-miR-1299	CLIP-seq
MIRT2085256	hsa-miR-1321	CLIP-seq
MIRT2085257	hsa-miR-190	CLIP-seq
MIRT2085258	hsa-miR-190b	CLIP-seq
MIRT2085259	hsa-miR-200b	CLIP-seq
MIRT2085260	hsa-miR-200c	CLIP-seq
MIRT2085261	hsa-miR-221	CLIP-seq
MIRT2085262	hsa-miR-222	CLIP-seq
MIRT2085263	hsa-miR-2467-3p	CLIP-seq
MIRT1287919	hsa-miR-2682	CLIP-seq
MIRT2085264	hsa-miR-3064-3p	CLIP-seq
MIRT1287922	hsa-miR-3146	CLIP-seq
MIRT2085265	hsa-miR-3150a-3p	CLIP-seq
MIRT2085266	hsa-miR-3159	CLIP-seq
MIRT2085267	hsa-miR-3175	CLIP-seq
MIRT2085268	hsa-miR-3612	CLIP-seq
MIRT2085269	hsa-miR-3659	CLIP-seq
MIRT2085270	hsa-miR-3663-5p	CLIP-seq
MIRT2085271	hsa-miR-412	CLIP-seq
MIRT2085272	hsa-miR-429	CLIP-seq
MIRT2085273	hsa-miR-4328	CLIP-seq
MIRT2085274	hsa-miR-4330	CLIP-seq
MIRT2085275	hsa-miR-4419a	CLIP-seq
MIRT2085276	hsa-miR-4438	CLIP-seq
MIRT1287933	hsa-miR-449c	CLIP-seq
MIRT2085277	hsa-miR-4510	CLIP-seq
MIRT2085278	hsa-miR-4667-5p	CLIP-seq
MIRT2085279	hsa-miR-4672	CLIP-seq
MIRT2085280	hsa-miR-4700-5p	CLIP-seq
MIRT2085281	hsa-miR-4728-5p	CLIP-seq
MIRT2085282	hsa-miR-4739	CLIP-seq
MIRT2085283	hsa-miR-4756-5p	CLIP-seq
MIRT2085284	hsa-miR-4778-3p	CLIP-seq
MIRT1287944	hsa-miR-4786-3p	CLIP-seq
MIRT2085285	hsa-miR-4793-5p	CLIP-seq
MIRT2085286	hsa-miR-507	CLIP-seq
MIRT2085287	hsa-miR-5095	CLIP-seq
MIRT2085288	hsa-miR-510	CLIP-seq
MIRT2085289	hsa-miR-512-5p	CLIP-seq
MIRT2085290	hsa-miR-548v	CLIP-seq
MIRT2085291	hsa-miR-557	CLIP-seq
MIRT2085292	hsa-miR-650	CLIP-seq
MIRT2085293	hsa-miR-939	CLIP-seq
MIRT2310722	hsa-miR-1224-5p	CLIP-seq
MIRT2310723	hsa-miR-183	CLIP-seq
MIRT2085264	hsa-miR-3064-3p	CLIP-seq
MIRT2310724	hsa-miR-3127-5p	CLIP-seq
MIRT2310725	hsa-miR-3145-3p	CLIP-seq
MIRT2310726	hsa-miR-4303	CLIP-seq
MIRT2310727	hsa-miR-4531	CLIP-seq
MIRT2310728	hsa-miR-4649-3p	CLIP-seq
MIRT2310729	hsa-miR-4716-3p	CLIP-seq
MIRT2310730	hsa-miR-4742-5p	CLIP-seq
MIRT2310731	hsa-miR-4747-5p	CLIP-seq
MIRT2310732	hsa-miR-4751	CLIP-seq
MIRT2310733	hsa-miR-4762-3p	CLIP-seq
MIRT2310734	hsa-miR-616	CLIP-seq
MIRT2310735	hsa-miR-625	CLIP-seq
MIRT2085265	hsa-miR-3150a-3p	CLIP-seq
MIRT2607069	hsa-miR-1	CLIP-seq
MIRT2607070	hsa-miR-1236	CLIP-seq
MIRT2607071	hsa-miR-1254	CLIP-seq
MIRT2607072	hsa-miR-1275	CLIP-seq
MIRT2607073	hsa-miR-1283	CLIP-seq
MIRT2607074	hsa-miR-1296	CLIP-seq
MIRT2085255	hsa-miR-1299	CLIP-seq
MIRT1287916	hsa-miR-1323	CLIP-seq
MIRT2607075	hsa-miR-134	CLIP-seq
MIRT2607076	hsa-miR-147	CLIP-seq
MIRT2607077	hsa-miR-15a	CLIP-seq
MIRT2607078	hsa-miR-15b	CLIP-seq
MIRT2607079	hsa-miR-16	CLIP-seq
MIRT2607080	hsa-miR-195	CLIP-seq
MIRT2607081	hsa-miR-1972	CLIP-seq
MIRT2607082	hsa-miR-206	CLIP-seq
MIRT2607083	hsa-miR-2278	CLIP-seq
MIRT2607084	hsa-miR-2909	CLIP-seq
MIRT1287920	hsa-miR-3064-5p	CLIP-seq
MIRT2607085	hsa-miR-3116	CLIP-seq
MIRT2607086	hsa-miR-3117-3p	CLIP-seq
MIRT2607087	hsa-miR-3118	CLIP-seq
MIRT2607088	hsa-miR-3158-3p	CLIP-seq
MIRT2607089	hsa-miR-3164	CLIP-seq
MIRT2607090	hsa-miR-3182	CLIP-seq
MIRT2607091	hsa-miR-3190	CLIP-seq
MIRT2607092	hsa-miR-3202	CLIP-seq
MIRT2607093	hsa-miR-330-3p	CLIP-seq
MIRT2607094	hsa-miR-33a	CLIP-seq
MIRT2607095	hsa-miR-33b	CLIP-seq
MIRT1287926	hsa-miR-345	CLIP-seq
MIRT2607096	hsa-miR-3545-5p	CLIP-seq
MIRT1287927	hsa-miR-3667-5p	CLIP-seq
MIRT2607097	hsa-miR-3673	CLIP-seq
MIRT2607098	hsa-miR-3911	CLIP-seq
MIRT2607099	hsa-miR-421	CLIP-seq
MIRT2607100	hsa-miR-424	CLIP-seq
MIRT2607101	hsa-miR-4260	CLIP-seq
MIRT2607102	hsa-miR-4421	CLIP-seq
MIRT2607103	hsa-miR-4422	CLIP-seq
MIRT1287932	hsa-miR-4427	CLIP-seq
MIRT2607104	hsa-miR-4436a	CLIP-seq
MIRT2607105	hsa-miR-4446-3p	CLIP-seq
MIRT2607106	hsa-miR-4488	CLIP-seq
MIRT1287935	hsa-miR-4522	CLIP-seq
MIRT2607107	hsa-miR-4533	CLIP-seq
MIRT2607108	hsa-miR-4650-5p	CLIP-seq
MIRT2607109	hsa-miR-4665-5p	CLIP-seq
MIRT1287940	hsa-miR-4680-3p	CLIP-seq
MIRT2607110	hsa-miR-4697-5p	CLIP-seq
MIRT2607111	hsa-miR-4709-3p	CLIP-seq
MIRT2607112	hsa-miR-4709-5p	CLIP-seq
MIRT1287943	hsa-miR-4714-5p	CLIP-seq
MIRT2310730	hsa-miR-4742-5p	CLIP-seq
MIRT2607113	hsa-miR-4760-3p	CLIP-seq
MIRT2607114	hsa-miR-4772-5p	CLIP-seq
MIRT2607115	hsa-miR-4777-5p	CLIP-seq
MIRT2607116	hsa-miR-4778-5p	CLIP-seq
MIRT2607117	hsa-miR-4782-5p	CLIP-seq
MIRT2607118	hsa-miR-4796-5p	CLIP-seq
MIRT2607119	hsa-miR-485-5p	CLIP-seq
MIRT2607120	hsa-miR-492	CLIP-seq
MIRT2607121	hsa-miR-497	CLIP-seq
MIRT2607122	hsa-miR-516b	CLIP-seq
MIRT2607123	hsa-miR-518d-5p	CLIP-seq
MIRT2607124	hsa-miR-519b-5p	CLIP-seq
MIRT2607125	hsa-miR-519c-5p	CLIP-seq
MIRT2607126	hsa-miR-520c-5p	CLIP-seq
MIRT2607127	hsa-miR-520d-5p	CLIP-seq
MIRT2607128	hsa-miR-524-5p	CLIP-seq
MIRT2607129	hsa-miR-526a	CLIP-seq
MIRT2607130	hsa-miR-532-5p	CLIP-seq
MIRT2607131	hsa-miR-545	CLIP-seq
MIRT1287948	hsa-miR-548o	CLIP-seq
MIRT2607132	hsa-miR-579	CLIP-seq
MIRT2607133	hsa-miR-613	CLIP-seq
MIRT1287950	hsa-miR-618	CLIP-seq
MIRT2607134	hsa-miR-644	CLIP-seq
MIRT2607135	hsa-miR-661	CLIP-seq
MIRT2607136	hsa-miR-9	CLIP-seq
MIRT2607069	hsa-miR-1	CLIP-seq
MIRT2607071	hsa-miR-1254	CLIP-seq
MIRT2607072	hsa-miR-1275	CLIP-seq
MIRT2607073	hsa-miR-1283	CLIP-seq
MIRT1287916	hsa-miR-1323	CLIP-seq
MIRT2607075	hsa-miR-134	CLIP-seq
MIRT2607076	hsa-miR-147	CLIP-seq
MIRT2607077	hsa-miR-15a	CLIP-seq
MIRT2607078	hsa-miR-15b	CLIP-seq
MIRT2607079	hsa-miR-16	CLIP-seq
MIRT2607080	hsa-miR-195	CLIP-seq
MIRT2607082	hsa-miR-206	CLIP-seq
MIRT2607083	hsa-miR-2278	CLIP-seq
MIRT1287920	hsa-miR-3064-5p	CLIP-seq
MIRT2607085	hsa-miR-3116	CLIP-seq
MIRT2607087	hsa-miR-3118	CLIP-seq
MIRT2607089	hsa-miR-3164	CLIP-seq
MIRT2607091	hsa-miR-3190	CLIP-seq
MIRT2607092	hsa-miR-3202	CLIP-seq
MIRT2607093	hsa-miR-330-3p	CLIP-seq
MIRT2607094	hsa-miR-33a	CLIP-seq
MIRT2607095	hsa-miR-33b	CLIP-seq
MIRT1287926	hsa-miR-345	CLIP-seq
MIRT1287927	hsa-miR-3667-5p	CLIP-seq
MIRT2607097	hsa-miR-3673	CLIP-seq
MIRT2607098	hsa-miR-3911	CLIP-seq
MIRT2607100	hsa-miR-424	CLIP-seq
MIRT2607101	hsa-miR-4260	CLIP-seq
MIRT2689278	hsa-miR-4276	CLIP-seq
MIRT2607102	hsa-miR-4421	CLIP-seq
MIRT2607103	hsa-miR-4422	CLIP-seq
MIRT1287932	hsa-miR-4427	CLIP-seq
MIRT2607104	hsa-miR-4436a	CLIP-seq
MIRT2607106	hsa-miR-4488	CLIP-seq
MIRT1287935	hsa-miR-4522	CLIP-seq
MIRT2607107	hsa-miR-4533	CLIP-seq
MIRT2607109	hsa-miR-4665-5p	CLIP-seq
MIRT1287940	hsa-miR-4680-3p	CLIP-seq
MIRT2607110	hsa-miR-4697-5p	CLIP-seq
MIRT2607111	hsa-miR-4709-3p	CLIP-seq
MIRT1287943	hsa-miR-4714-5p	CLIP-seq
MIRT2310730	hsa-miR-4742-5p	CLIP-seq
MIRT2607113	hsa-miR-4760-3p	CLIP-seq
MIRT2607115	hsa-miR-4777-5p	CLIP-seq
MIRT2607116	hsa-miR-4778-5p	CLIP-seq
MIRT2607118	hsa-miR-4796-5p	CLIP-seq
MIRT2607119	hsa-miR-485-5p	CLIP-seq
MIRT2607120	hsa-miR-492	CLIP-seq
MIRT2689279	hsa-miR-494	CLIP-seq
MIRT2607121	hsa-miR-497	CLIP-seq
MIRT2607123	hsa-miR-518d-5p	CLIP-seq
MIRT2607124	hsa-miR-519b-5p	CLIP-seq
MIRT2607125	hsa-miR-519c-5p	CLIP-seq
MIRT2607126	hsa-miR-520c-5p	CLIP-seq
MIRT2607127	hsa-miR-520d-5p	CLIP-seq
MIRT2607128	hsa-miR-524-5p	CLIP-seq
MIRT2607129	hsa-miR-526a	CLIP-seq
MIRT2607130	hsa-miR-532-5p	CLIP-seq
MIRT2607131	hsa-miR-545	CLIP-seq
MIRT1287948	hsa-miR-548o	CLIP-seq
MIRT2607133	hsa-miR-613	CLIP-seq
MIRT1287950	hsa-miR-618	CLIP-seq
MIRT2607134	hsa-miR-644	CLIP-seq
MIRT2607135	hsa-miR-661	CLIP-seq
MIRT2607136	hsa-miR-9	CLIP-seq

Show/Hide all (67)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000014	Function	Single-stranded DNA endodeoxyribonuclease activity	IDA	9705271
GO:0000019	Process	Regulation of mitotic recombination	IDA	8756642
GO:0000166	Function	Nucleotide binding	IEA
GO:0000722	Process	Telomere maintenance via recombination	IBA
GO:0000723	Process	Telomere maintenance	IEA
GO:0000723	Process	Telomere maintenance	TAS	10888888
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	27889449, 28867292
GO:0000729	Process	DNA double-strand break processing	IDA	16622404, 21757780
GO:0000729	Process	DNA double-strand break processing	NAS	26512707
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0000781	Component	Chromosome, telomeric region	IDA	10888888
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000794	Component	Condensed nuclear chromosome	IBA
GO:0003677	Function	DNA binding	IDA	15790808
GO:0003678	Function	DNA helicase activity	IMP	15790808
GO:0003691	Function	Double-stranded telomeric DNA binding	IBA
GO:0005515	Function	Protein binding	IPI	11096100, 18716619, 24534091, 24651726, 27568553
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	18171670
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IDA	9705271
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IBA
GO:0006302	Process	Double-strand break repair	IEA
GO:0006302	Process	Double-strand break repair	IMP	9590181
GO:0006302	Process	Double-strand break repair	TAS	10802669
GO:0006310	Process	DNA recombination	IDA	9705271
GO:0006974	Process	DNA damage response	IDA	17500065
GO:0006974	Process	DNA damage response	IEA
GO:0007004	Process	Telomere maintenance via telomerase	IBA
GO:0007004	Process	Telomere maintenance via telomerase	IDA	9705271
GO:0007131	Process	Reciprocal meiotic recombination	TAS	8756642
GO:0008408	Function	3'-5' exonuclease activity	IDA	9705271
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	9651580, 27889449
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	12152085
GO:0030870	Component	Mre11 complex	IBA
GO:0030870	Component	Mre11 complex	IDA	27889449
GO:0030870	Component	Mre11 complex	IDA	9590181, 10888888, 15790808, 16622404, 19151086, 28867292, 38961290
GO:0030870	Component	Mre11 complex	IPI	31147924
GO:0030870	Component	Mre11 complex	TAS	27918544
GO:0031860	Process	Telomeric 3' overhang formation	IMP	16374507
GO:0032206	Process	Positive regulation of telomere maintenance	IMP	16374507
GO:0035825	Process	Homologous recombination	NAS	30657944
GO:0035861	Component	Site of double-strand break	IDA	16622404, 21757780, 28867292
GO:0035861	Component	Site of double-strand break	IDA	15916964
GO:0042802	Function	Identical protein binding	IPI	28134932
GO:0043047	Function	Single-stranded telomeric DNA binding	IBA
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	16622404
GO:0044818	Process	Mitotic G2/M transition checkpoint	NAS	22369660
GO:0046872	Function	Metal ion binding	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051880	Function	G-quadruplex DNA binding	IBA
GO:0062176	Process	R-loop processing	IDA	31537797
GO:0070192	Process	Chromosome organization involved in meiotic cell cycle	IBA
GO:0070533	Component	BRCA1-C complex	IPI	16391231
GO:0098687	Component	Chromosomal region	NAS	26512707
GO:0110025	Process	DNA strand resection involved in replication fork processing	IDA	27889449
GO:0110025	Process	DNA strand resection involved in replication fork processing	NAS	29709199
GO:1904354	Process	Negative regulation of telomere capping	IDA	17694070
GO:2000781	Process	Positive regulation of double-strand break repair	IMP	15790808

MIM	HGNC	e!Ensembl
604040	9816	ENSG00000113522

Q92878

Protein name

DNA repair protein RAD50 (hRAD50) (EC 3.6.-.-)

Protein function

Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:15064416, PubMed:21757780, PubMed:27889449, PubMed:28134932, PubMed:28867292,

PDB

5GOX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13476	AAA_23	6 → 235	AAA domain	Domain
PF04423	Rad50_zn_hook	659 → 712	Rad50 zinc hook motif	Motif
PF13558	SbcCD_C	1174 → 1251		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at very low level in most tissues, except in testis where it is expressed at higher level. Expressed in fibroblasts. {ECO:0000269|PubMed:8756642}.

Sequence

MSRIEKMSILGVRSFGIEDKDKQIITFFSPLTILVGPNGAGKTTIIECLKYICTGDFPPG
TKGNTFVHDPKVAQETDVRAQIRLQFRDVNGELIAVQRSMVCTQKSKKTEFKTLEGVITR
TKHGEKVSLSSKCAEIDREMISSLGVSKAVLNNVIFCHQEDSNWPLSEGKALKQKFDEIF
SATRYIKALETLRQVRQTQGQKVKEYQMELKYLKQYKEKACEIRDQITSKEAQLTSSKEI
VKSYENELDPLKNRLKEIEHNLSKIMKLDNEIKALDSRKKQMEKDNSELEEKMEKVFQGT
DEQLNDLYHNHQRTVREKERKLVDCHRELEKLNKESRLLNQEKSELLVEQGRLQLQADRH
QEHIRARDSLIQSLATQLELDGFERGPFSERQIKNFHKLVRERQEGEAKTANQLMNDFAE
KETLKQKQIDEIRDKKTGLGRIIELKSEILSKKQNELKNVKYELQQLEGSSDRILELDQE
LIKAERELSKAEKNSNVETLKMEVISLQNEKADLDRTLRKLDQEMEQLNHHTTTRTQMEM
LTKDKADKDEQIRKIKSRHSDELTSLLGYFPNKKQLEDWLHSKSKEINQTRDRLAKLNKE
LASSEQNKNHINNELKRKEEQLSSYEDKLFDVCGSQDFESDLDRLKEEIEKSSKQRAMLA
GATAVYSQFITQLTDENQSCCPVCQRVFQTEAELQEVISDLQSKLRLAPDKLKSTESELK
KKEKRRDEMLGLVPMRQSIIDLKEKEIPELRNKLQNVNRDIQRLKNDIEEQETLLGTIMP
EEESAKVCLTDVTIMERFQMELKDVERKIAQQAAKLQGIDLDRTVQQVNQEKQEKQHKLD
TVSSKIELNRKLIQDQQEQIQHLKSTTNELKSEKLQISTNLQRRQQLEEQTVELSTEVQS
LYREIKDAKEQVSPLETTLEKFQQEKEELINKKNTSNKIAQDKLNDIKEKVKNIHGYMKD
IENYIQDGKDDYKKQKETELNKVIAQLSECEKHKEKINEDMRLMRQDIDTQKIQERWLQD
NLTLRKRNEELKEVEEERKQHLKEMGQMQVLQMKSEHQKLEENIDNIKRNHNLALGRQKG
YEEEIIHFKKELREPQFRDAEEKYREMMIVMRTTELVNKDLDIYYKTLDQAIMKFHSMKM
EEINKIIRDLWRSTYRGQDIEYIEIRSDADENVSASDKRRNYNYRVVMLKGDTALDMRGR
CSAGQKVLASLIIRLALAETFCLNCGIIALDEPTTNLDRENIESLAHALVEIIKSRSQQR
NFQLLVITHDEDFVELLGRSEYVEKFYRIKKNIDQCSEIVKCSVSSLGFNVH

Sequence length

1312

Interactions

View interactions

	KEGG		Reactome
	Homologous recombination Non-homologous end-joining Cellular senescence		DNA Damage/Telomere Stress Induced Senescence HDR through Single Strand Annealing (SSA) HDR through MMEJ (alt-NHEJ) HDR through Homologous Recombination (HRR) Sensing of DNA Double Strand Breaks Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Resolution of D-loop Structures through Holliday Junction Intermediates Nonhomologous End-Joining (NHEJ) Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint

5057

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Breast and/or ovarian cancer	Likely pathogenic; Pathogenic	rs149201802, rs1554099776, rs1581004749, rs1751169439	RCV001270999 RCV001271002 RCV001271001 RCV001271003
Breast carcinoma	Pathogenic	rs142947311	RCV001554329
Familial cancer of breast	Likely pathogenic; Pathogenic	rs748086984, rs1561635887	RCV004556876 RCV003315440
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs2479651900, rs2479666526, rs149201802	RCV002280926 RCV002280927 RCV002280874
Hereditary breast ovarian cancer syndrome	Likely pathogenic; Pathogenic	rs587782543, rs373428259, rs786201897, rs1236278956, rs768522804, rs1750698269	RCV003479019 RCV001194191 RCV003155095 RCV002271531 RCV001174620 RCV001030503
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2149840720, rs2149862702, rs2149865518, rs1461558597, rs1750079483, rs876660467, rs1303748284, rs2149837821, rs2149840475, rs2149840692, rs2149840715, rs2149841198, rs2149841496, rs2149841547, rs1060501946 View all (409 more)	RCV001379503 RCV001377701 RCV001378151 RCV001384805 RCV001387183 RCV001387048 RCV001388389 RCV001382764 RCV001384801 RCV001380371 RCV001380049 RCV001381942 RCV001389032 RCV001382603 RCV001389742 RCV001390329 RCV001380815 RCV001384103 RCV001380174 RCV001385065 RCV001380165 RCV001381051 RCV001380664 RCV001384854 RCV001381254 RCV001385583 RCV001389699 RCV001380968 RCV001386922 RCV001383675 RCV001775046 RCV003746603 RCV003772141 RCV000566508 RCV000115930 RCV000222369 RCV000115950 RCV000115951 RCV000115961 RCV001920542 RCV001918925 RCV001989275 RCV002013500 RCV001923389 RCV001991956 RCV001968955 RCV001994588 RCV001934479 RCV001938202 RCV001970125 RCV001987533 RCV001881964 RCV001912169 RCV001984985 RCV001976018 RCV001929079 RCV001892310 RCV001928721 RCV002007257 RCV002002356 RCV002002393 RCV002007175 RCV001974315 RCV002037749 RCV001993384 RCV001994469 RCV002035494 RCV001942206 RCV001962963 RCV001893763 RCV001939362 RCV002022285 RCV001953434 RCV001913213 RCV001949929 RCV001951064 RCV001942289 RCV001946572 RCV001958668 RCV001956335 RCV001932875 RCV001941466 RCV001903928 RCV001951333 RCV001959124 RCV001981419 RCV001975024 RCV001975113 RCV002023768 RCV001979736 RCV001979865 RCV000129139 RCV000129612 RCV001920278 RCV000129908 RCV000129946 RCV002021464 RCV000130243 RCV000130277 RCV000130289 RCV001948776 RCV001984026 RCV000130574 RCV000130597 RCV000131751 RCV000132490 RCV000132534 RCV002454793 RCV002451909 RCV002349004 RCV002349105 RCV002452658 RCV002355615 RCV002320936 RCV002322544 RCV002457309 RCV002452274 RCV002324962 RCV002351260 RCV002357927 RCV002347192 RCV002351777 RCV002434664 RCV002412320 RCV000166807 RCV000164362 RCV000164601 RCV000166691 RCV000167058 RCV000167224 RCV000163726 RCV000167173 RCV000166330 RCV000164257 RCV000164879 RCV000164416 RCV000167267 RCV000167343 RCV000164886 RCV000164215 RCV000164979 RCV002387412 RCV002389402 RCV002406123 RCV002404005 RCV002419806 RCV002426348 RCV002424378 RCV002424294 RCV002441345 RCV002440016 RCV002435193 RCV003064504 RCV002606438 RCV002601848 RCV002680754 RCV002720155 RCV002775560 RCV002801790 RCV002815281 RCV002828885 RCV002839487 RCV002862108 RCV002829356 RCV002830032 RCV002847794 RCV002898781 RCV002880479 RCV002876237 RCV002871411 RCV002866937 RCV002868005 RCV000575384 RCV002894685 RCV002903349 RCV002937442 RCV002909980 RCV002923103 RCV002952676 RCV002952881 RCV002949421 RCV000196809 RCV000199364 RCV003015539 RCV003049763 RCV003055407 RCV003054799 RCV003043844 RCV003048772 RCV000205188 RCV000205373 RCV000222879 RCV000216511 RCV000218272 RCV000220905 RCV000215584 RCV000226081 RCV000222834 RCV000223038 RCV000214856 RCV000218400 RCV000223373 RCV000216775 RCV000215726 RCV000220659 RCV000217594 RCV000213422 RCV000217668 RCV000218193 RCV000223643 RCV000222027 RCV000223053 RCV000222314 RCV000222239 RCV000229634 RCV000231380 RCV000232037 RCV000226547 RCV003341709 RCV003746679 RCV003585410 RCV003585427 RCV003585576 RCV003585537 RCV003585550 RCV003585558 RCV003584116 RCV003584218 RCV003584258 RCV003584285 RCV003584286 RCV003584389 RCV003746805 RCV003746874 RCV003747013 RCV003746931 RCV003746964 RCV003747009 RCV003746992 RCV003747003 RCV003746978 RCV003747000 RCV003747112 RCV003747210 RCV003747148 RCV003747165 RCV003747119 RCV003747242 RCV003747267 RCV003747269 RCV003747299 RCV003746046 RCV003747361 RCV003747428 RCV003746120 RCV003746173 RCV003746288 RCV003850765 RCV003875918 RCV003862219 RCV004521648 RCV004521670 RCV000471690 RCV000472041 RCV000476558 RCV000472391 RCV000458636 RCV000476546 RCV000458297 RCV000467476 RCV000476454 RCV000469803 RCV000467015 RCV000464633 RCV000457032 RCV000457701 RCV000463503 RCV000532614 RCV000526307 RCV000548794 RCV000559378 RCV000556040 RCV000534908 RCV000547326 RCV000528279 RCV000550668 RCV000540486 RCV000537787 RCV000539798 RCV000030957 RCV000030958 RCV000571181 RCV000562754 RCV000564020 RCV000564613 RCV000564244 RCV000561243 RCV000570029 RCV000566598 RCV000574630 RCV000568771 RCV000563637 RCV000562287 RCV000566085 RCV000561558 RCV000574201 RCV000569347 RCV000572187 RCV000567062 RCV000570382 RCV000562976 RCV000563233 RCV000567846 RCV000569212 RCV000570950 RCV000567649 RCV000567858 RCV000567302 RCV000565589 RCV000565287 RCV000567152 RCV000574322 RCV000565538 RCV000572566 RCV000564761 RCV000572292 RCV000564695 RCV000562607 RCV000571089 RCV000572930 RCV000566959 RCV000632202 RCV000632207 RCV000632224 RCV000632221 RCV000632205 RCV000632244 RCV000632234 RCV000632222 RCV000632239 RCV000686622 RCV000707239 RCV000707680 RCV000700839 RCV000693112 RCV000698438 RCV000687296 RCV000701914 RCV000697445 RCV000706426 RCV000696292 RCV000695264 RCV000696113 RCV000698856 RCV000707197 RCV000697259 RCV000697811 RCV000698020 RCV000693685 RCV001010527 RCV004949879 RCV000708627 RCV000807165 RCV000792461 RCV000799258 RCV000810455 RCV000799846 RCV000802404 RCV000814878 RCV000804595 RCV000803033 RCV000813082 RCV000800001 RCV000807111 RCV000798583 RCV000821612 RCV001022116 RCV001024509 RCV001026096 RCV001026257 RCV001018583 RCV001019961 RCV001009708 RCV001017217 RCV001010131 RCV001010338 RCV001010764 RCV001011088 RCV001011283 RCV001013282 RCV001013823 RCV001014086 RCV001014150 RCV001014262 RCV001014368 RCV001014791 RCV001016869 RCV001017634 RCV001018253 RCV001018334 RCV001018975 RCV001019015 RCV001019558 RCV001020119 RCV001021123 RCV001021124 RCV001016171 RCV001024209 RCV001024210 RCV001018421 RCV001015817 RCV001017508 RCV001020165 RCV001045434 RCV001071477 RCV001035395 RCV001053802 RCV001066510 RCV001043351 RCV001039714 RCV001053003 RCV001059550 RCV001064311 RCV001063994 RCV001039368 RCV001038351 RCV001061494 RCV001052879 RCV001059857 RCV001036910 RCV001225216 RCV001217733 RCV001202968 RCV001216061 RCV001231421 RCV001236341 RCV001227581 RCV001229988 RCV001231539 RCV001233277 RCV001234739 RCV001239823 RCV001242237 RCV001239800 RCV001248666 RCV001229945 RCV001238390 RCV002541658
Lymphoma	Likely pathogenic; Pathogenic	rs587781742	RCV005886910
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs587781742	RCV005886909
Neoplasm	Likely pathogenic; Pathogenic	rs786203485	RCV004668827
Neoplasm of the skin	Pathogenic	rs587780154	RCV001554265
Nijmegen breakage syndrome-like disorder	Pathogenic; Likely pathogenic	rs2149847342, rs2149840720, rs1750079483, rs2149847772, rs876658749, rs104895046, rs587780150, rs587780154, rs377260382, rs1750077980, rs1750779319, rs2149862783, rs587781904, rs587781930, rs587782078 View all (96 more)	RCV001374466 RCV003469640 RCV002243177 RCV001784896 RCV001784897 RCV003460797 RCV001781445 RCV001781446 RCV001781448 RCV003464182 RCV002258340 RCV003483867 RCV001535645 RCV001781470 RCV001781471 RCV000763128 RCV001781475 RCV000662958 RCV003462225 RCV000409900 RCV003467299 RCV002257472 RCV002498810 RCV001781518 RCV001781510 RCV003462134 RCV003468809 RCV003468724 RCV001781509 RCV004572438 RCV000006230 RCV003462312 RCV003459712 RCV003465909 RCV000411352 RCV004567606 RCV003469037 RCV000411533 RCV003469105 RCV005031794 RCV001290527 RCV002494589 RCV002500724 RCV001782712 RCV002257524 RCV001782710 RCV003462447 RCV002500789 RCV000576613 RCV003463429 RCV003463431 RCV003463433 RCV003463434 RCV003463435 RCV003463436 RCV003471771 RCV003471772 RCV003471773 RCV003471774 RCV003471775 RCV003471776 RCV003471777 RCV003988614 RCV000576588 RCV002257712 RCV003463903 RCV001782940 RCV004568012 RCV003463902 RCV002496766 RCV002496765 RCV003388583 RCV003470724 RCV000763129 RCV003470723 RCV001783031 RCV003459187 RCV005031464 RCV000576837 RCV001783075 RCV001783074 RCV002257845 RCV003470839 RCV003465247 RCV000781782 RCV003470838 RCV003465274 RCV005034129 RCV001783076 RCV003465273 RCV003470837 RCV003465208 RCV003459503 RCV000663161 RCV004569316 RCV000984943 RCV003460947 RCV001784329 RCV005034327 RCV003465643 RCV003467380 RCV005036173 RCV003467688 RCV001784561 RCV003467702 RCV003467834 RCV002298865 RCV003467803 RCV003462797 RCV003469405 RCV005036521
Ovarian cancer	Likely pathogenic	rs2479427969	RCV003154766
RAD50-related disorder	Pathogenic; Likely pathogenic	rs587781904, rs786201789, rs762648843, rs1580993593, rs766315644, rs587781454, rs1580992265, rs1580993516	RCV003965074 RCV003907517 RCV003401153 RCV003405803 RCV004751537 RCV004751535 RCV003396606 RCV003413801
See cases	Likely pathogenic; Pathogenic	rs1581004859	RCV002252308

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs181016343	RCV005888825
Breast cancer, susceptibility to	Conflicting classifications of pathogenicity; Uncertain significance	rs61749630, rs367683141	RCV001535641 RCV003483501
Breast-ovarian cancer, familial, susceptibility to, 1	Uncertain significance	rs202197835	RCV003483492
Breast-ovarian cancer, familial, susceptibility to, 2	Uncertain significance	rs1751036957	RCV004813158
Cervical cancer	Likely benign; Conflicting classifications of pathogenicity	rs1217569216, rs181016343	RCV005926269 RCV005888827
Diffuse midline glioma, H3 K27M-mutant	Conflicting classifications of pathogenicity	rs370769989	RCV006253866
Gastric cancer	Benign; Uncertain significance	rs117081789, rs753002904, rs201800554	RCV005888581 RCV005895029 RCV005866925
Lung sarcomatoid carcinoma	Uncertain significance	rs367925756	RCV003322600
Malignant tumor of breast	Uncertain significance	rs2479617451	RCV003230761
Myoepithelial tumor	Conflicting classifications of pathogenicity	rs786202847	RCV002463656
Neuroepithelial tumor, PATZ1 fusion-positive	Uncertain significance	rs755022536	RCV003313092
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs181016343	RCV005888826
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs104895050, rs2479634862	RCV005887891 RCV005931522
Premature ovarian insufficiency	Conflicting classifications of pathogenicity; Uncertain significance	rs28903092, rs876659120	RCV000766182 RCV000766183
Prostate cancer	Uncertain significance	rs193921012	RCV000149176
Sarcoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs369581851, rs181016343	RCV005893568 RCV005888828
Thymoma	Likely benign	rs564270332	RCV005926180
Uterine corpus endometrial carcinoma	Benign	rs201800554	RCV005866926

Show/Hide Text Mining Associations (88)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	19866438
Adenocarcinoma Mucinous	Associate	26705231
Adenomatous Polyposis Coli	Associate	39519399
Alternating hemiplegia of childhood	Associate	17693401
Arrest of spermatogenesis	Associate	31983050
Asthma	Associate	18846228, 20159242, 22694930, 27050946
Ataxia Telangiectasia	Associate	21757780
Ataxia Telangiectasia	Inhibit	9315668
Ataxia Telangiectasia Like Disorder	Associate	12966088
Atherosclerosis	Associate	26821299
ATR X syndrome	Associate	23329831
Autistic Disorder	Associate	30755392
Bloom Syndrome	Associate	11916980
Bone Marrow Diseases	Associate	26366868
Bone Marrow Failure Disorders	Associate	33378670
Breast Neoplasms	Associate	12433983, 16474176, 17292821, 19383352, 21356067, 21599985, 21898661, 23181716, 24642965, 24884479, 24894818, 27782108, 28241424, 28419251, 28424414 View all (10 more)
Calcinosis Cutis	Associate	24934408
Carcinoma Hepatocellular	Associate	24020493, 35853969, 38320622
Carcinoma Ovarian Epithelial	Associate	28073364, 30640700
Carcinoma Small Cell	Associate	33632300
Chromosome Aberrations	Associate	24642965
Chromosome Breakage	Associate	36833239
Colonic Neoplasms	Associate	33318301
Colorectal Neoplasms	Associate	11429044, 14507650, 18219098
Dermatitis Atopic	Associate	18846228, 28364410
Developmental Defects of Enamel	Associate	33378670
Developmental Disabilities	Associate	30755392
Disease	Associate	21599985
DNA Virus Infections	Associate	33090711
Drug Related Side Effects and Adverse Reactions	Associate	24642965, 28376765
Facial Dysmorphism with Multiple Malformations	Associate	32212377
Fanconi Anemia	Associate	15199173, 17524422, 31537797
Gallbladder Neoplasms	Associate	19866438, 33328484
Growth Disorders	Associate	32212377
HAIR AN syndrome	Inhibit	32197467
Head and Neck Neoplasms	Associate	24079363
Idiopathic Noncirrhotic Portal Hypertension	Associate	24020493
Immune System Diseases	Associate	30755392
Infertility Male	Associate	31983050
Inflammation	Stimulate	18219098
Kaposiform Hemangioendothelioma	Associate	31887709
Leiomyoma	Inhibit	30478352
Leukemia	Associate	24093751
Leukemia Lymphocytic Chronic B Cell	Inhibit	18077792
Leukemia Myeloid	Associate	8756642
Leukemia Myeloid Acute	Associate	24093751, 30480765
Liver Diseases Alcoholic	Associate	24020493
Lupus Erythematosus Systemic	Associate	27492607
Lymphoma B Cell Marginal Zone	Associate	19917125
Lymphoma Large B Cell Diffuse	Associate	19917125
Lymphoma Non Hodgkin	Associate	19917125, 20813000
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Associate	24803180, 31983050
Medulloblastoma	Associate	28376765
Melanoma	Associate	22725639, 29975213
Mesothelioma Malignant	Associate	30700254
Microcephaly	Associate	32212377
Microsatellite Instability	Associate	11429044, 33318301, 36833239
Multiple Myeloma	Associate	20148879, 26366868
Neoplasm Metastasis	Associate	37474724
Neoplasms	Associate	15150571, 16025146, 16207477, 16474176, 18219098, 19383352, 20679231, 21777411, 23181716, 24642965, 24934408, 26705231, 26824983, 27016230, 29975213 View all (12 more)
Neoplastic Syndromes Hereditary	Associate	35501303, 40282418
Nerve Degeneration	Associate	17706468
Neural Tube Defects	Associate	8756642
Neurologic Manifestations	Associate	34068194
Nijmegen Breakage Syndrome	Associate	10346816, 11448772, 23762398, 32212377, 9590181
Nijmegen Breakage Syndrome Like Disorder	Associate	19409520, 32212377
Non Muscle Invasive Bladder Neoplasms	Associate	35833951
Ovarian Neoplasms	Associate	27016230, 34734468, 36729997
Pancreatic Neoplasms	Associate	29961768, 34034685
Personality Disorders	Stimulate	34734468
Polycystic Ovary Syndrome	Associate	26416764
Polycythemia Vera	Associate	37024097
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	24093751
Progeria	Associate	17848622
Prostatic Neoplasms	Associate	21777411
Prostatic Neoplasms Castration Resistant	Associate	32606146
Prostatitis	Associate	16207477
Rectal Neoplasms	Associate	30176843
Sarcoma	Associate	37536918
Sertoli Cell Only Syndrome	Associate	31983050
Small Cell Lung Carcinoma	Associate	24934408, 25185187
Stomach Neoplasms	Associate	36970058, 40282418
Triple Negative Breast Neoplasms	Associate	33090711
Tufted angioma	Associate	31887709
Turcot syndrome	Associate	16025146
Urinary Bladder Neoplasms	Associate	37474724, 40571318
Uterine Cervical Dysplasia	Associate	37217238
Uterine Cervical Neoplasms	Associate	31488179

RAD50 (RAD50 double strand break repair protein)