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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	580
Gene name Gene Name - the full gene name approved by the HGNC.	BRCA1 associated RING domain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BARD1
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q35
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRC

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SNP ID	Visualize variation	Clinical significance	Consequence
rs3738885	G>C,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs3738888	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, benign	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs28997576	C>G,T	Likely-benign, risk-factor, benign	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs76744638	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs113789798	TT>-,T,TTT,TTTT,TTTTT,TTTTTT	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant
rs138593305	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, intron variant, stop gained
rs142155101	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign-likely-benign	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs142864491	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs144856889	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs145009419	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs146946984	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs147215925	T>C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs200254470	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs200359745	A>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs201032007	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs369561166	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs370359540	C>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs373257776	T>C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, non coding transcript variant, intron variant, coding sequence variant
rs376639978	C>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs377153250	G>A,C	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant, intron variant
rs587780017	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587780020	T>A,C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587780021	G>A,C	Pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs587780024	CTGTTCACATACTTTTCTTC>-,CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, inframe indel, stop gained, non coding transcript variant, coding sequence variant
rs587780033	T>-,TT	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs587780035	G>A,C,T	Pathogenic, likely-benign, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs587781430	G>A	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs587781555	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587781591	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587781671	AAAT>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs587781707	G>A,C	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs587781728	A>C	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs587781806	C>A,T	Pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs587781874	T>A,C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587781948	G>A	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs587781976	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587782333	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs587782504	TA>-	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs587782681	G>C	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs587782897	AT>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs730881411	G>A,C	Pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs730881415	C>A,T	Pathogenic, likely-benign, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs730881422	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs730881424	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs746325928	->T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs747446711	C>A,T	Pathogenic, uncertain-significance	Intron variant, missense variant, stop gained, non coding transcript variant, coding sequence variant
rs750413473	CA>-	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs751710099	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant, intron variant
rs753153934	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs753479021	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs753537518	AGCT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs753785671	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs758972589	G>A,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, stop gained, intron variant
rs761516178	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs761702998	G>A,C,T	Pathogenic, likely-benign	Non coding transcript variant, intron variant, coding sequence variant, synonymous variant, stop gained
rs762171436	A>C,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, intron variant, coding sequence variant, stop gained
rs762601855	C>G,T	Likely-pathogenic, uncertain-significance	Splice acceptor variant, genic downstream transcript variant
rs765629130	A>G,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, intron variant, coding sequence variant, stop gained
rs767587416	A>-	Pathogenic	Non coding transcript variant, frameshift variant, intron variant, coding sequence variant
rs768490891	C>A,G,T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, non coding transcript variant, splice donor variant
rs772486760	->TCTT	Pathogenic	Non coding transcript variant, frameshift variant, intron variant, coding sequence variant
rs773223671	C>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, synonymous variant, stop gained, genic downstream transcript variant, coding sequence variant
rs776851287	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained
rs777937955	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, intron variant, stop gained, coding sequence variant
rs779427628	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs780627045	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, non coding transcript variant, missense variant, synonymous variant
rs781482219	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant, intron variant
rs786201868	CT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs786201912	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs786202118	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant, missense variant, genic downstream transcript variant
rs786202500	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs786202559	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs786203533	TCAC>CAT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs786203739	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs786203811	TG>-	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs786203891	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs796666047	G>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs864622223	TT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs864622239	T>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs876658260	T>A,C,G	Likely-pathogenic, uncertain-significance	Splice acceptor variant, genic downstream transcript variant
rs876658429	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs876658571	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs876658905	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs876659560	T>-	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs876659572	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs876659752	AA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs876659894	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs876660061	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs876660237	C>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs876660390	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs876660761	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs876660911	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs878853995	G>C,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs878854003	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, intron variant, non coding transcript variant, missense variant
rs878854011	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs879253879	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs879253880	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, non coding transcript variant, missense variant, genic downstream transcript variant
rs879253952	C>T	Pathogenic	Splice acceptor variant, intron variant
rs879254139	C>A,T	Likely-pathogenic	Splice acceptor variant, intron variant
rs879254264	TAAAATACA>-	Likely-pathogenic	Splice acceptor variant, intron variant
rs905491643	C>A,G,T	Pathogenic, uncertain-significance	Intron variant, stop gained, missense variant, non coding transcript variant, coding sequence variant
rs999444545	->A	Pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1025329798	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs1057517589	TC>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs1060501287	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs1060501288	C>A,G,T	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant, stop gained
rs1060501291	T>A,G	Uncertain-significance, pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant, stop gained
rs1060501310	C>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs1064792931	AGCAGCAATAGCGATTTCATACTTTCATCATCTGT>CGC	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs1064793682	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs1064795005	T>A,C	Likely-pathogenic, uncertain-significance	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, stop gained
rs1064796026	->T	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1172609046	A>C	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1213894295	C>T	Pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant
rs1234033325	A>C	Likely-pathogenic	Splice donor variant, intron variant
rs1316885634	T>C	Pathogenic	Intron variant, splice acceptor variant
rs1350570988	G>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1364256214	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, intron variant
rs1405646805	G>A,C	Pathogenic, uncertain-significance	Non coding transcript variant, intron variant, missense variant, coding sequence variant, stop gained
rs1420243208	TT>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1453894904	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, non coding transcript variant, intron variant, stop gained
rs1475396127	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs1482641121	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1553612164	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1553612184	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553612205	->T	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553612222	CCCAC>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553614963	->A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553615092	T>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553615102	GTCAAACTCAGTATATTTT>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553615135	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553615184	CT>-	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, splice acceptor variant
rs1553616339	CCAAAGCTAAATCCATACTTACTAC>-	Likely-pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs1553616352	->TAGCTGAGGATGATTCATTCTTCTCTGGT	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553616361	->TCTCT	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553619196	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs1553619249	->A	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553619258	->T	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553619349	G>T	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553619688	->C	Likely-pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs1553619704	T>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553619713	TT>ATG	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553619721	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622103	TCCT>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622106	C>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622145	T>-	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622160	TAGAC>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622164	GACA>-	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622178	->T	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622216	A>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622218	C>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622300	->G	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622342	TA>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622378	->A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622397	->T	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622471	G>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622487	->T	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622530	C>T	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622534	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1553622542	G>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622558	->C	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553622669	T>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622681	->A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553622720	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1553624758	TTAT>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553624801	C>-	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1553624802	G>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553624830	TTAC>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1559371635	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1559372578	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1559372682	->AA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1559387024	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559410146	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1559423185	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1559423694	->ACCT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559424302	->A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1559424634	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1559425010	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1559425098	GAGATAACAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559425604	T>-,TT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559426428	C>A	Likely-pathogenic	Splice acceptor variant, intron variant
rs1559437094	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1559437198	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1559437264	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559441760	A>G	Likely-pathogenic	Splice donor variant, intron variant
rs1559441846	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1574702099	TT>-	Uncertain-significance, likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1574706516	ATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCACATA>-	Likely-pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, splice donor variant, coding sequence variant
rs1574706907	AGGAATTTCATACTTTTCTTC>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1574737047	A>G,T	Likely-pathogenic	Splice donor variant, intron variant
rs1574739005	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574739114	T>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574739207	CACT>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574739562	->A	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574756047	G>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574756672	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1574815812	TAGA>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574816645	TAATGTAGAAG>CAA	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574818696	TCACT>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574818832	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574819607	A>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574820590	->GA	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574821103	->G	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574821129	->C	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574821575	TTGTTTC>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574839460	T>A	Pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs1574847428	A>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant

Show/Hide all(42)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004138	hsa-miR-192-5p	Microarray	16822819
MIRT016283	hsa-miR-193b-3p	Microarray	20304954
MIRT024951	hsa-miR-215-5p	Microarray	19074876
MIRT004138	hsa-miR-192-5p	Microarray	19074876
MIRT437454	hsa-miR-182-5p	Luciferase reporter assay	23249749
MIRT531997	hsa-miR-4760-3p	PAR-CLIP	22012620
MIRT531996	hsa-miR-500b-3p	PAR-CLIP	22012620
MIRT531995	hsa-miR-6501-3p	PAR-CLIP	22012620
MIRT531994	hsa-miR-610	PAR-CLIP	22012620
MIRT531993	hsa-miR-6802-3p	PAR-CLIP	22012620
MIRT531992	hsa-miR-3942-3p	PAR-CLIP	22012620
MIRT531997	hsa-miR-4760-3p	PAR-CLIP	22012620
MIRT531996	hsa-miR-500b-3p	PAR-CLIP	22012620
MIRT531995	hsa-miR-6501-3p	PAR-CLIP	22012620
MIRT531994	hsa-miR-610	PAR-CLIP	22012620
MIRT531993	hsa-miR-6802-3p	PAR-CLIP	22012620
MIRT531992	hsa-miR-3942-3p	PAR-CLIP	22012620
MIRT755769	hsa-miR-4796-5p	Luciferase reporter assay, Western blotting, qRT-PCR, in vitro cullelar assays, GFP reporter assay	37460775
MIRT815871	hsa-miR-101	CLIP-seq
MIRT815872	hsa-miR-1206	CLIP-seq
MIRT815873	hsa-miR-1537	CLIP-seq
MIRT815874	hsa-miR-1973	CLIP-seq
MIRT815875	hsa-miR-19a	CLIP-seq
MIRT815876	hsa-miR-19b	CLIP-seq
MIRT815877	hsa-miR-203	CLIP-seq
MIRT815878	hsa-miR-342-3p	CLIP-seq
MIRT815879	hsa-miR-369-3p	CLIP-seq
MIRT815880	hsa-miR-374a	CLIP-seq
MIRT815881	hsa-miR-374b	CLIP-seq
MIRT815882	hsa-miR-378g	CLIP-seq
MIRT815883	hsa-miR-4437	CLIP-seq
MIRT815884	hsa-miR-4490	CLIP-seq
MIRT815885	hsa-miR-4674	CLIP-seq
MIRT815886	hsa-miR-4719	CLIP-seq
MIRT815887	hsa-miR-4774-5p	CLIP-seq
MIRT815888	hsa-miR-548ac	CLIP-seq
MIRT815889	hsa-miR-548ae	CLIP-seq
MIRT815890	hsa-miR-548aj	CLIP-seq
MIRT815891	hsa-miR-548am	CLIP-seq
MIRT815892	hsa-miR-548d-3p	CLIP-seq
MIRT815893	hsa-miR-548x	CLIP-seq
MIRT815894	hsa-miR-548z	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
BRIP1	Unknown	20451671

Show/Hide all(60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	NAS	14976165
GO:0000152	Component	Nuclear ubiquitin ligase complex	IDA	14636569
GO:0001894	Process	Tissue homeostasis	TAS	15782130
GO:0003723	Function	RNA binding	IDA	12419249
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	12890688, 20351172
GO:0004842	Function	Ubiquitin-protein transferase activity	NAS	15905410
GO:0005515	Function	Protein binding	IPI	8944023, 10026184, 10477523, 15184379, 15265711, 15383276, 15782130, 17873885, 19117993, 19369211, 20351172, 20379136, 22110403, 23680151, 24981860, 25416956, 29656893, 31270457, 31515488, 32296183, 33961781, 34591612, 35512704
GO:0005634	Component	Nucleus	IDA	9342365, 14636569, 15265711
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	15632137
GO:0005634	Component	Nucleus	NAS	18171670, 20656689, 22369660
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	15265711
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	NAS	22369660
GO:0006282	Process	Regulation of DNA repair	NAS	20656689
GO:0006338	Process	Chromatin remodeling	TAS	35351360
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	35351360
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	NAS	15905410, 16651405
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	NAS	15905410
GO:0016607	Component	Nuclear speck	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0019900	Function	Kinase binding	NAS	15782130
GO:0031436	Component	BRCA1-BARD1 complex	IBA
GO:0031436	Component	BRCA1-BARD1 complex	IDA	12890688, 15265711, 19117993, 20351172
GO:0031436	Component	BRCA1-BARD1 complex	IPI	11573085
GO:0031441	Process	Negative regulation of mRNA 3'-end processing	NAS	15905410
GO:0035825	Process	Homologous recombination	NAS	22369660, 30657944
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0042325	Process	Regulation of phosphorylation	IMP	15782130
GO:0042803	Function	Protein homodimerization activity	IPI	15265711
GO:0043065	Process	Positive regulation of apoptotic process	IMP	15782130
GO:0043066	Process	Negative regulation of apoptotic process	IMP	15265711
GO:0044818	Process	Mitotic G2/M transition checkpoint	NAS	22369660
GO:0045732	Process	Positive regulation of protein catabolic process	NAS	15905410
GO:0045786	Process	Negative regulation of cell cycle	NAS	15159397
GO:0046826	Process	Negative regulation of protein export from nucleus	IDA	15265711
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	15265711
GO:0051726	Process	Regulation of cell cycle	NAS	15632137
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061649	Function	Ubiquitin-modified histone reader activity	TAS	35351360
GO:0070531	Component	BRCA1-A complex	IBA
GO:0070531	Component	BRCA1-A complex	IDA	17525342, 19261748, 19261749
GO:0070531	Component	BRCA1-A complex	NAS	20656689
GO:0070532	Component	BRCA1-B complex	IPI	16391231
GO:0070533	Component	BRCA1-C complex	IPI	16391231
GO:0071479	Process	Cellular response to ionizing radiation	IMP	14636569
GO:0085020	Process	Protein K6-linked ubiquitination	IBA
GO:0085020	Process	Protein K6-linked ubiquitination	IDA	12890688, 20351172
GO:0110025	Process	DNA strand resection involved in replication fork processing	NAS	29709199
GO:0140863	Function	Histone H2AK127 ubiquitin ligase activity	TAS	35351360
GO:0140864	Function	Histone H2AK129 ubiquitin ligase activity	TAS	35351360
GO:2000001	Process	Regulation of DNA damage checkpoint	NAS	14636569

MIM	HGNC	e!Ensembl
601593	952	ENSG00000138376

Protein

UniProt ID

Q99728

Protein name

BRCA1-associated RING domain protein 1 (BARD-1) (EC 2.3.2.27) (RING-type E3 ubiquitin transferase BARD1)

Protein function

E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptiona

PDB

1JM7 , 2NTE , 2R1Z , 3C5R , 3FA2 , 6M14 , 7E8I , 7JZV , 7LYB , 7LYC , 8GRQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14835	zf-RING_6	41 → 105	zf-RING of BARD1-type protein	Domain
PF00023	Ank	427 → 459	Ankyrin repeat	Repeat
PF00023	Ank	460 → 491	Ankyrin repeat	Repeat
PF00023	Ank	494 → 525	Ankyrin repeat	Repeat

Sequence

MPDNRQPRNRQPRIRSGNEPRSAPAMEPDGRGAWAHSRAALDRLEKLLRCSRCTNILREP
VCLGGCEHIFCSNCVSDCIGTGCPVCYTPAWIQDLKINRQLDSMIQLCSKLRNLLHDNEL
SDLKEDKPRKSLFNDAGNKKNSIKMWFSPRSKKVRYVVSKASVQTQPAIKKDASAQQDSY
EFVSPSPPADVSERAKKASARSGKKQKKKTLAEINQKWNLEAEKEDGEFDSKEESKQKLV
SFCSQPSVISSPQINGEIDLLASGSLTESECFGSLTEVSLPLAEQIESPDTKSRNEVVTP
EKVCKNYLTSKKSLPLENNGKRGHHNRLSSPISKRCRTSILSTSGDFVKQTVPSENIPLP
ECSSPPSCKRKVGGTSGRKNSNMSDEFISLSPGTPPSTLSSSSYRRVMSSPSAMKLLPNM
AVKRNHRGETLLHIASIKGDIPSVEYLLQNGSDPNVKDHAGWTPLHEACNHGHLKVVELL
LQHKALVNTTGYQNDSPLHDAAKNGHVDIVKLLLSYGASRNAVNIFGLRPVDYTDDESMK
SLLLLPEKNESSSASHCSVMNTGQRRDGPLVLIGSGLSSEQQKMLSELAVILKAKKYTEF
DSTVTHVVVPGDAVQSTLKCMLGILNGCWILKFEWVKACLRRKVCEQEEKYEIPEGPRRS
RLNREQLLPKLFDGCYFYLWGTFKHHPKDNLIKLVTAGGGQILSRKPKPDSDVTQTINTV
AYHARPDSDQRFCTQYIIYEDLCNYHPERVRQGKVWKAPSSWFIDCVMSFELLPLDS

Sequence length

777

Interactions

View interactions

	KEGG		Reactome
	Homologous recombination		HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) UCH proteinases Metalloprotease DUBs 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

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Breast Cancer	Malignant tumor of breast	rs864622223, rs876659572, rs879253880, rs1064793049, rs587780024, rs1057517589, rs587781948, rs587782504, rs730881411, rs1482641121, rs758972589	N/A
Breast Carcinoma	breast carcinoma	rs1574737047, rs377153250	N/A
Endometrial carcinoma	endometrial carcinoma	rs587780021	N/A
gastric cancer	Gastric cancer	rs587780024, rs751710099, rs587781948, rs1553616361, rs1553619721, rs1553622218, rs730881411	N/A
Multiple myeloma	multiple myeloma	rs1574706907	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Adenomatous Polyposis	Familial adenomatous polyposis 2	N/A	N/A	ClinVar
Colorectal Cancer	hereditary nonpolyposis colon cancer	N/A	N/A	GenCC
Hepatoblastoma	hepatoblastoma	N/A	N/A	ClinVar
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
lung cancer	Lung cancer	N/A	N/A	ClinVar
Neuroblastoma	Neuroblastoma	N/A	N/A	GWAS
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
Ovarian cancer	Familial ovarian cancer, familial ovarian cancer	N/A	N/A	ClinVar, GenCC

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adrenal Gland Diseases	Associate	26941572
Adrenocortical Carcinoma	Associate	25657202
Breast Diseases	Associate	36315097
Breast Neoplasms	Associate	11278247, 15367667, 16061562, 16672066, 16768547, 16825437, 16957774, 17510055, 21344236, 25428789, 25452441, 25634209, 25740706, 26534844, 26787654 View all (38 more)
Breast Neoplasms	Stimulate	32091585
Breast Neoplasms	Inhibit	39261728
Carcinogenesis	Associate	33629311
Carcinoma Basal Cell	Associate	30089731
Carcinoma Hepatocellular	Associate	28794477
Carcinoma Non Small Cell Lung	Associate	33439503, 37704455
Carcinoma Pancreatic Ductal	Associate	28726808
Chromosomal Instability	Associate	16957774
Chromosome Breakage	Associate	38266639
Colorectal Neoplasms	Associate	21693656, 22814582, 25058500, 27197561, 31371347, 35567913
DNA Virus Infections	Associate	25690937
Embryo Loss	Inhibit	16957774
Glioblastoma	Associate	37727789
Hereditary Breast and Ovarian Cancer Syndrome	Associate	11278247, 14638690, 15632137, 16061562, 16618730, 16825437, 17510055, 21344236, 22863316, 24349422, 24549055, 24755837, 26350354, 29367421, 29988077 View all (5 more)
Hyperkinesis	Associate	27977889
Hypersensitivity Immediate	Associate	28161399
Immunologic Deficiency Syndromes	Associate	31371347
Inflammatory Breast Neoplasms	Associate	30933323, 34445631
Leukemia Lymphoma Adult T Cell	Associate	33562071
Leukemia Myeloid Acute	Associate	24349422
Lupus Erythematosus Systemic	Associate	27492607
Lymphatic Metastasis	Stimulate	28794477
Melanoma	Associate	33672422
Nasopharyngeal Carcinoma	Associate	35616619
Neoplasm Metastasis	Stimulate	31808361
Neoplasm Metastasis	Associate	37474724
Neoplasms	Associate	11257228, 11526114, 11927591, 16061562, 16618730, 17510055, 19287957, 21344236, 22814582, 22863316, 24150215, 25058500, 26490435, 26981160, 27197561 View all (20 more)
Neoplasms	Inhibit	15632137, 16825437, 16838325, 21693656, 24349422, 28161399, 28634376, 29180619, 32726637, 35487060, 9342365
Neoplasms	Stimulate	28794477
Neoplastic Syndromes Hereditary	Associate	28050010, 30099541, 32090079
Neuroblastoma	Associate	19412175, 21436895, 22328350, 23222812, 24293394, 25312269, 26941572, 27009842, 28161399, 28467792, 30793172, 31480262, 33384420, 35131881, 35768791, 37688570, 37688579 View all (2 more)
Neuroendocrine Tumors	Associate	36645718
Ovarian Neoplasms	Associate	12732733, 15886201, 16061562, 18480049, 19584272, 24240112, 26315354, 26718727, 28564596, 33560870, 34528705, 34740923
Ovarian Neoplasms	Inhibit	24289923
Pancreatic Neoplasms	Associate	26483394
Personality Disorders	Associate	19412175
Polycythemia Vera	Associate	33146377, 34793666
Prostatic Neoplasms	Associate	37733366
Radiation Injuries	Stimulate	26053117
Recombinant chromosome 8 syndrome	Associate	32719318, 34510272, 36315097, 37193789, 38039432
Renal cell carcinoma 1	Associate	15159397
Sarcoma Ewing	Associate	36187937
Specific Language Disorder	Associate	17392432
Triple Negative Breast Neoplasms	Associate	25452441, 25690937, 28085182, 29988077, 31371347, 33471974, 35084436
Urinary Bladder Neoplasms	Associate	37474724
Uterine Neoplasms	Associate	16061562
Wilms Tumor	Associate	28161399

BARD1 (BRCA1 associated RING domain 1)