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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	9401
Gene name	RecQ like helicase 4
Gene symbol	RECQL4
Synonyms (NCBI Gene)	RECQ4
Chromosome	8
Chromosome location	8q24.3
Summary	The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and tes

Show/Hide all (84)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34134064	AC>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs34666647	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs35346077	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs61755066	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs117642173	C>T	Pathogenic	Splice acceptor variant
rs137853229	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs137853230	G>A	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs137853232	G>A	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs148912524	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs190388213	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201815449	G>A,C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs202045203	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs368081792	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs368989729	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs372380880	C>T	Pathogenic	Splice acceptor variant, intron variant
rs373130543	C>T	Likely-pathogenic	Splice donor variant, non coding transcript variant, missense variant, coding sequence variant
rs386833843	A>-	Pathogenic	Splice donor variant
rs386833844	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs386833845	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386833846	CCCG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386833847	TCCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs386833848	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs386833849	C>A,G,T	Likely-pathogenic, pathogenic	Intron variant, splice acceptor variant
rs386833850	A>C,G	Likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, intron variant, non coding transcript variant, synonymous variant, missense variant
rs386833851	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs386833852	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs386833853	T>A,G	Likely-pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, stop gained
rs398124117	C>G,T	Pathogenic	Splice acceptor variant
rs552960344	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs557284122	A>C	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant, missense variant
rs746303718	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs746691436	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant
rs748604051	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, intron variant, synonymous variant
rs752301125	C>G,T	Likely-pathogenic	Splice acceptor variant, missense variant, coding sequence variant
rs752729755	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs754134346	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs758790200	G>A	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained
rs760363252	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs762028333	C>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, stop gained
rs768749064	A>C,G	Likely-pathogenic	Synonymous variant, non coding transcript variant, splice donor variant, coding sequence variant, intron variant
rs770709355	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs771349728	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs771538008	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs773765879	TC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs778141083	AC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs780542343	AAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGGAGGC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786200887	AGGCCGC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786200889	T>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs786200890	CTGTGA>-	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant
rs878854644	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs878854645	->TT	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs886043102	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1054186954	G>A,T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs1060501383	AGGGGC>GGGGG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085307090	C>A	Likely-pathogenic	Splice donor variant
rs1176959485	C>A,T	Likely-pathogenic	Splice donor variant
rs1215700016	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1220902289	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1356876749	C>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1402322681	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1406641581	G>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1457411812	T>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1483085748	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554896308	->TGCTGCGCTCCTCATCCTGC	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs1554896691	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554897134	GTGCTTACCTGTGGGCCAGGGCCTGGAGCTGGGCAGGGC>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant, non coding transcript variant
rs1554898257	ACAGCCCGCACATCTGGCCGGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs1554898541	T>C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1554899720	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554899728	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1554901674	C>T	Pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs1564790457	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained
rs1564791894	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant, missense variant
rs1564794448	->GGCCC	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1564802464	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564804342	CC>G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564804479	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1586790519	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, splice donor variant
rs1586791537	C>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1586791945	C>T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1586794620	C>-	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, splice donor variant
rs1586795055	CA>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1586795973	A>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1586819343	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

Show/Hide all (13)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016439	hsa-miR-193b-3p	Microarray	20304954
MIRT039905	hsa-miR-615-3p	CLASH	23622248
MIRT2313899	hsa-miR-3609	CLIP-seq
MIRT2313900	hsa-miR-520g	CLIP-seq
MIRT2313901	hsa-miR-520h	CLIP-seq
MIRT2313902	hsa-miR-548ac	CLIP-seq
MIRT2313903	hsa-miR-548ae	CLIP-seq
MIRT2313904	hsa-miR-548ah	CLIP-seq
MIRT2313905	hsa-miR-548aj	CLIP-seq
MIRT2313906	hsa-miR-548am	CLIP-seq
MIRT2313907	hsa-miR-548d-3p	CLIP-seq
MIRT2313908	hsa-miR-548x	CLIP-seq
MIRT2313909	hsa-miR-548z	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
HDAC1	Repression	15674334
SP1	Activation	15674334
SP1	Unknown	10552928
TP53	Activation	15674334

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000405	Function	Bubble DNA binding	IDA	19177149
GO:0000723	Process	Telomere maintenance	IBA
GO:0000723	Process	Telomere maintenance	IMP	22039056
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0000781	Component	Chromosome, telomeric region	IMP	22039056
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	TAS	22039056
GO:0005515	Function	Protein binding	IPI	21044950, 22039056
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0006260	Process	DNA replication	IBA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	22039056
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	9878247
GO:0006310	Process	DNA recombination	IEA
GO:0009378	Function	Four-way junction helicase activity	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0032357	Function	Oxidized purine DNA binding	IDA	22039056
GO:0043138	Function	3'-5' DNA helicase activity	IMP	19177149
GO:0046872	Function	Metal ion binding	IEA
GO:0051276	Process	Chromosome organization	IEA
GO:0061820	Process	Telomeric D-loop disassembly	IDA	22039056
GO:0061820	Process	Telomeric D-loop disassembly	IGI	22039056
GO:0061821	Function	Telomeric D-loop binding	IDA	22039056
GO:0140097	Function	Catalytic activity, acting on DNA	IEA
GO:1990814	Function	DNA/DNA annealing activity	IDA	19177149

MIM	HGNC	e!Ensembl
603780	9949	ENSG00000160957

O94761

Protein name

ATP-dependent DNA helicase Q4 (EC 5.6.2.4) (DNA 3'-5' helicase RecQ4) (DNA helicase, RecQ-like type 4) (RecQ4) (RTS) (RecQ protein-like 4)

Protein function

An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction (PubMed:28653661). Does not unwind more than 18 bp of dsDNA (PubMed:28653661). May modulate chromosome segregation. The N-terminal domain (residues 1-54) b

PDB

2KMU , 5LST

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11719	Drc1-Sld2	4 → 112	DNA replication and checkpoint protein	Family
PF00270	DEAD	482 → 652	DEAD/DEAH box helicase	Domain
PF00271	Helicase_C	683 → 809	Helicase conserved C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in thymus and testis. {ECO:0000269|PubMed:9878247}.

Sequence

MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYREYRTLKRTTGQAGGGLR
SSESLPAAAEEAPEPRCWGPHLNRAATKSPQSTPGRSRQGSVPDYGQRLKANLKGTLQAG
PALGRRPWPLGRASSKASTPKPPGTGPVPSFAEKVSDEPPQLPEPQPRPGRLQHLQASLS
QRLGSLDPGWLQRCHSEVPDFLGAPKACRPDLGSEESQLLIPGESAVLGPGAGSQGPEAS
AFQEVSIRVGSPQPSSSGGEKRRWNEEPWESPAQVQQESSQAGPPSEGAGAVAVEEDPPG
EPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAEGTAPLHIFPRLARHDRGNYVRLNMKQ
KHYVRGRALRSRLLRKQAWKQKWRKKGECFGGGGATVTTKESCFLNEQFDHWAAQCPRPA
SEEDTDAVGPEPLVPSPQPVPEVPSLDPTVLPLYSLGPSGQLAETPAEVFQALEQLGHQA
FRPGQERAVMRILSGISTLLVLPTGAGKSLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQ
VSGLPPCLKAACIHSGMTRKQRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVA
FACIDEAHCLSQWSHNFRPCYLRVCKVLRERMGVHCFLGLTATATRRTASDVAQHLAVAE
EPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNLDSIIIYCNRREDTERIAALL
RTCLHAAWVPGSGGRAPKTTAEAYHAGMCSRERRRVQRAFMQGQLRVVVATVAFGMGLDR
PDVRAVLHLGLPPSFESYVQAVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFL
AVKRLVQRVFPACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGH
ERALPIQLTVQALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCPGGPAQLQALA
HRCPPLAVCLAQQLPEDPGQGSSSVEFDMVKLVDSMGWELASVRRALCQLQWDHEPRTGV
RRGTGVLVEFSELAFHLRSPGDLTAEEKDQICDFLYGRVQARERQALARLRRTFQAFHSV
AFPSCGPCLEQQDEERSTRLKDLLGRYFEEEEGQEPGGMEDAQGPEPGQARLQDWEDQVR
CDIRQFLSLRPEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLAT
EELLQVAR

Sequence length

1208

Interactions

View interactions

5794

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	Pathogenic	rs386833845	RCV000761024
Baller-Gerold syndrome	Likely pathogenic; Pathogenic	rs398124117, rs1815033569, rs2130657545, rs2130676059, rs569948031, rs2130702516, rs1331348912, rs376392965, rs1827314465, rs2130655986, rs1319295020, rs2130658485, rs1827372162, rs2130662004, rs1203766600 View all (303 more)	RCV000474405 RCV001388590 RCV001376815 RCV001378084 RCV001378208 RCV001378989 RCV001381989 RCV001386884 RCV001381196 RCV001390982 RCV001388951 RCV001390719 RCV001383340 RCV001389491 RCV001388445 RCV001382147 RCV001387129 RCV001384533 RCV001385570 RCV001382447 RCV001385804 RCV001389876 RCV001382120 RCV001388060 RCV001382471 RCV001382033 RCV001386833 RCV001390547 RCV001382939 RCV001381590 RCV001390535 RCV001384803 RCV001380243 RCV001382117 RCV001388955 RCV001386314 RCV001381497 RCV001449646 RCV002570744 RCV001775044 RCV002544271 RCV001923223 RCV001970302 RCV002038929 RCV001993016 RCV001979037 RCV001928310 RCV001999919 RCV001941700 RCV001960613 RCV001941818 RCV001904402 RCV001968047 RCV001981313 RCV001970964 RCV001931317 RCV001949243 RCV001976382 RCV001926543 RCV002007280 RCV001993159 RCV001893490 RCV002037814 RCV001891688 RCV001994495 RCV001941956 RCV002031137 RCV001941543 RCV001941605 RCV001951234 RCV001946973 RCV001950978 RCV001970071 RCV001896939 RCV002001142 RCV001930664 RCV001953527 RCV001972614 RCV002046674 RCV001901590 RCV001944029 RCV001982936 RCV001959197 RCV001985044 RCV001985169 RCV001975082 RCV001960061 RCV001921818 RCV001987104 RCV001918550 RCV002041057 RCV003094080 RCV003058698 RCV003065380 RCV003060903 RCV003079092 RCV002599636 RCV002595420 RCV002592135 RCV002637217 RCV003104701 RCV003108465 RCV003115600 RCV000471676 RCV002591343 RCV002590144 RCV002597217 RCV002634875 RCV002627132 RCV002642779 RCV002690341 RCV002721628 RCV002800322 RCV002774917 RCV002846572 RCV002839420 RCV002857553 RCV002866196 RCV002866785 RCV002867172 RCV002857313 RCV002881320 RCV002858122 RCV002876592 RCV002871117 RCV002863503 RCV002881062 RCV002848321 RCV002889702 RCV002886022 RCV002886142 RCV002891105 RCV002913574 RCV002885253 RCV002872784 RCV002913443 RCV002512831 RCV000464774 RCV000527990 RCV002279710 RCV000169785 RCV000814733 RCV002279711 RCV001068023 RCV000006445 RCV000006448 RCV000793666 RCV002947451 RCV002914969 RCV002904248 RCV002914839 RCV002939080 RCV003021378 RCV003030837 RCV002996567 RCV003019207 RCV003026645 RCV003024099 RCV003038505 RCV003042061 RCV003015015 RCV003045634 RCV003027009 RCV003055542 RCV003040985 RCV000490255 RCV000227479 RCV000234695 RCV000233962 RCV000234369 RCV003507271 RCV001219316 RCV003507555 RCV003507605 RCV003508055 RCV003508371 RCV003508164 RCV003508580 RCV003508670 RCV003508648 RCV003508651 RCV003508760 RCV003508596 RCV003506860 RCV003508847 RCV003506842 RCV003506850 RCV003506836 RCV003506913 RCV003506967 RCV003507062 RCV003507220 RCV003507226 RCV003507977 RCV003507982 RCV003507892 RCV003616160 RCV003616267 RCV003616468 RCV003616488 RCV003616379 RCV003616665 RCV003616512 RCV003616595 RCV003616839 RCV003616679 RCV003616849 RCV003616687 RCV003616901 RCV003616942 RCV003617070 RCV003617085 RCV003617021 RCV003617189 RCV003615600 RCV003615626 RCV003615609 RCV003615636 RCV003615761 RCV003615718 RCV003819924 RCV003834815 RCV003835844 RCV003861486 RCV003854004 RCV003851558 RCV003862446 RCV003876351 RCV003879929 RCV000468125 RCV000476268 RCV005208566 RCV000458104 RCV000465867 RCV000690768 RCV001390976 RCV000537554 RCV000542322 RCV000539216 RCV000551500 RCV000526223 RCV000556402 RCV000536821 RCV001056578 RCV000634252 RCV000634280 RCV000634228 RCV000634275 RCV000634305 RCV000634251 RCV000634279 RCV000634229 RCV000634234 RCV001211921 RCV001861876 RCV000686305 RCV000703108 RCV000686928 RCV000698119 RCV000697637 RCV000688309 RCV000696676 RCV000700758 RCV000695333 RCV000700041 RCV000686054 RCV000703178 RCV000693655 RCV000684868 RCV000692603 RCV000699637 RCV001217303 RCV002536492 RCV001061144 RCV000813807 RCV000803970 RCV000814235 RCV000795969 RCV000824600 RCV000806868 RCV000794693 RCV000793405 RCV000815861 RCV000795101 RCV000818967 RCV000794242 RCV000804036 RCV000797175 RCV000799876 RCV000792722 RCV000795732 RCV000811085 RCV000792036 RCV000809483 RCV001063498 RCV000812127 RCV000228610 RCV005089447 RCV001044864 RCV000535585 RCV000543467 RCV000991393 RCV001389677 RCV001039419 RCV001063592 RCV001061310 RCV001046641 RCV001046313 RCV001048469 RCV001059460 RCV001050612 RCV001048229 RCV001046314 RCV001049368 RCV001051398 RCV001063301 RCV001053031 RCV001063080 RCV001071845 RCV001216904 RCV001215651 RCV001217277 RCV001201898 RCV001209666 RCV001204870 RCV001224297 RCV001219305 RCV001230413 RCV001231826 RCV001228596 RCV001229614 RCV001241343 RCV001244293 RCV001244511 RCV001246194 RCV001236750 RCV001871755
Congenital heart disease	Likely pathogenic; Pathogenic	rs2538113308, rs386833852	RCV005363155 RCV005357427
Ehlers-Danlos syndrome	Pathogenic	rs2537979860	RCV005626869
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs2130651375, rs137853229, rs752729755, rs786200889, rs1060501353, rs34134064, rs368081792, rs386833851	RCV002255981 RCV002255991 RCV002258780 RCV002255992 RCV002256258 RCV002257792 RCV002259000 RCV002255274
High grade surface osteosarcoma	Pathogenic	rs386833845	RCV000761053
Malignant fibrous histiocytoma	Likely pathogenic; Pathogenic	rs1483085748	RCV000761065
Ovarian cancer	Likely pathogenic	rs376874393, rs753593981	RCV003154740 RCV003154806
Papillary renal cell carcinoma type 1	Likely pathogenic	rs1586790519	RCV005902034
Rapadilino syndrome	Likely pathogenic; Pathogenic	rs398124117, rs1203766600, rs746636748, rs137853229, rs752729755, rs386833845, rs137853231, rs1085307090, rs771538008, rs766312203, rs768782202, rs1406641581, rs1586824938, rs386833843, rs386833844 View all (9 more)	RCV002498420 RCV002476733 RCV002503690 RCV000763179 RCV001198176 RCV000049813 RCV000006444 RCV000490255 RCV001199106 RCV002500783 RCV003330298 RCV002501150 RCV002477843 RCV000049811 RCV000049812 RCV000049814 RCV000049815 RCV000049817 RCV000049819 RCV000049820 RCV000049821 RCV000049822 RCV000049823 RCV000991393
RECQL4-related disorder	Pathogenic; Likely pathogenic	rs377589237, rs781636798, rs746636748, rs137853229, rs386833845, rs137853232, rs752895450, rs1060501383, rs1215700016	RCV003388007 RCV002510286 RCV004737282 RCV004786242 RCV004786243 RCV004532299 RCV004536831 RCV004539942 RCV004726850
RECQL4-related spectrum disorders	Pathogenic; Likely pathogenic	rs2130706345, rs373130543	RCV001563659 RCV001563658
Rothmund-Thomson syndrome	Pathogenic; Likely pathogenic	rs137853229, rs386833845, rs1085307090, rs773325186, rs1554896308, rs1554898257, rs1564804479, rs377589237	RCV000006435 RCV000006438 RCV000490255 RCV000680220 RCV000677716 RCV000677717 RCV000680082 RCV000825542
Rothmund-Thomson syndrome type 2	Likely pathogenic; Pathogenic	rs398124117, rs1203766600, rs2130718434, rs746636748, rs1827563088, rs786200887, rs137853229, rs752729755, rs386833849, rs386833845, rs117642173, rs137853232, rs760363252, rs771538008, rs766312203 View all (8 more)	RCV002498420 RCV002476733 RCV002251039 RCV001814092 RCV005601926 RCV000006434 RCV000984855 RCV000006436 RCV000006437 RCV000984856 RCV000006439 RCV000006441 RCV004795378 RCV000006450 RCV004771469 RCV002500783 RCV005055109 RCV001523816 RCV001523815 RCV002470953 RCV002501150 RCV002477843 RCV002490625 RCV000991393
Sarcoma	Likely pathogenic; Pathogenic	rs398124117	RCV005886459
See cases	Likely pathogenic	rs2130716088	RCV002252636

Show/Hide Unknown Diseases (29)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1827839026	-
Absent radius	Likely benign	rs780188311	RCV000850299
Acute myeloid leukemia	Benign; Uncertain significance	rs34642881, rs4251692, rs377031190	RCV005889580 RCV005892694 RCV005899450
Cervical cancer	Benign; Uncertain significance	rs34642881, rs4251692, rs377031190, rs1554895829	RCV005889584 RCV005892697 RCV005899452 RCV005901326
Cholangiocarcinoma	Benign	rs4251692	RCV005892708
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Uncertain significance; Likely benign	rs4251692, rs377031190, rs558061753	RCV005892711 RCV005899457 RCV005869479
Clear cell carcinoma of kidney	Benign; Likely benign	rs35215952	RCV005899526
Familial cancer of breast	Benign	rs4244613	RCV005886461
Familial meningioma	Benign; Likely benign; Uncertain significance	rs548804317, rs747895651	RCV005645050 RCV005645087
Familial pancreatic carcinoma	Benign	rs34642881, rs4251692	RCV005889585 RCV005892700
Gastric cancer	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs375297971, rs4251692, rs35215952, rs368982201	RCV005889578 RCV005892703 RCV005899527 RCV005901325
Hepatoblastoma	Uncertain significance	rs763114749	RCV001843498
Hepatocellular carcinoma	Benign; Uncertain significance	rs4244610, rs34642881, rs368982201	RCV005886460 RCV005889581 RCV005901324
Lung cancer	Benign; Likely benign; Uncertain significance	rs34642881, rs116137512, rs4251692, rs377031190, rs35215952	RCV005889591 RCV005895285 RCV005892709 RCV005899456 RCV005899530
Lymphoma	Benign; Uncertain significance	rs4251692, rs377031190	RCV005892704 RCV005899455
Malignant lymphoma, large B-cell, diffuse	Benign	rs4251692	RCV005892701
Malignant tumor of breast	Uncertain significance; Conflicting classifications of pathogenicity	rs781636798, rs761231404	RCV001269486 RCV001269499
Malignant tumor of esophagus	Benign; Uncertain significance	rs34642881, rs4251692, rs377031190	RCV005889582 RCV005892695 RCV005899451
Malignant tumor of urinary bladder	-	rs748155891	RCV005931750
Melanoma	Benign; Likely benign	rs34642881, rs35215952	RCV005889590 RCV005899529
Multiple myeloma	Uncertain significance	rs771349728	RCV000984120
Nonpapillary renal cell carcinoma	Benign	rs34642881, rs4251692	RCV005889583 RCV005892696
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs34038879, rs375297971, rs34642881, rs4251692, rs35215952, rs764549158	RCV005919237 RCV005889579 RCV005889587 RCV005892705 RCV005899528 RCV005901322
Squamous cell carcinoma of the head and neck	-	rs1815108719	RCV005931123
Thymoma	Benign; Likely benign	rs35126141, rs4251692	RCV005886458 RCV005892707
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs34642881, rs199654783	RCV005889589 RCV005895283
Uterine carcinosarcoma	Benign	rs34642881, rs4251692	RCV005889588 RCV005892706
Uterine corpus endometrial carcinoma	Likely benign; -; Uncertain significance; Benign	rs34038879, rs2130681102, rs201883228, rs116137512, rs4251692	RCV005919238 RCV005922431 RCV005895284 RCV005895286 RCV005892710
Uveal melanoma	Benign; Uncertain significance	rs4251692, rs377031190	RCV005892699 RCV005899453

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	39519399
Aging Premature	Associate	10620009, 20451470, 23650516, 26455304
Anodontia	Associate	35086131
Bloom Syndrome	Associate	23650516
Breast Neoplasms	Associate	23894508, 24072219, 26690729, 30947698, 36126066, 36323529
Calcinosis Cutis	Stimulate	34477047
Carcinogenesis	Associate	25424877, 31604778
Carcinoma Hepatocellular	Associate	34486474
Carcinoma Small Cell	Associate	24518840
Carcinoma Squamous Cell	Associate	37456212
Cell Transformation Neoplastic	Associate	36871012
Cholangiocarcinoma	Associate	32040444
Chromosomal Instability	Associate	19567405
Chromosome 8 trisomy	Associate	28039508
Colonic Neoplasms	Stimulate	34477047
Colorectal Neoplasms	Associate	15750208, 34361106
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	30312871
Craniosynostoses	Associate	15964893
Craniosynostosis radial aplasia syndrome	Associate	15964893, 18716613, 19299466, 22885111, 23161009, 24942867, 25966250
Cutis Laxa Autosomal Recessive Type IIB	Associate	27859906
Developmental Defects of Enamel	Associate	30312871, 36126066
Dysplastic Nevus Syndrome	Associate	23300679
Fanconi Anemia	Associate	28423363
Genetic Diseases Inborn	Associate	19299466, 24942867, 25424877, 25966250, 26455304, 29659569
Growth Disorders	Associate	15964893, 18716613
Hereditary Breast and Ovarian Cancer Syndrome	Associate	23894508, 29659569, 30306255
Iridogoniodysgenesis and skeletal anomalies	Associate	31303264, 34965247
Laryngeal Neoplasms	Associate	17641416
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	40344211
Liposarcoma	Associate	36464833
Lymphoma	Associate	18716613, 24746816
Melanoma	Associate	23300679, 33077847
Mesothelioma	Associate	31887429
Mitochondrial Diseases	Associate	24746816
Musculoskeletal Diseases	Associate	28159839
Neoplasm Invasiveness	Associate	32152520
Neoplasm Metastasis	Associate	17641416, 34477047
Neoplasms	Associate	15750208, 18382428, 18693251, 18716613, 20451470, 23650516, 23894508, 24746816, 24835790, 26455304, 27320928, 27764811, 27859906, 28090586, 29642415 View all (10 more)
Neoplasms	Stimulate	19242607
Neoplasms	Inhibit	26690729, 35236797
Nevus	Associate	23300679
Osseous Heteroplasia Progressive	Associate	28039508
Osteosarcoma	Associate	18716613, 19242607, 20465837, 24518840, 24835790, 28159839, 29367366, 29642415, 29706636, 30312871, 31604778, 34965247
Ovarian Neoplasms	Associate	23965899
Pancreatic Neoplasms	Associate	39256447
Personality Disorders	Associate	26690729
Prostate cancer familial	Associate	29659569
Prostatic Neoplasms	Associate	21045146, 29659569
Prostatitis	Associate	21045146, 36126066
Protein S Deficiency	Stimulate	19242607
Radial Ray Deficiency X Linked	Associate	15964893
Rapadilino syndrome	Associate	15964893, 18716613, 19299466, 22885111, 23161009, 24942867
Rett Syndrome	Associate	12379465, 23894508
Rothmund Thomson Syndrome	Associate	12379465, 15964893, 16809776, 18504617, 18693251, 18716613, 19177149, 19242607, 19299466, 19567405, 20222902, 21045146, 21143835, 22039056, 22885111 View all (26 more)
Skin Diseases	Associate	15924278
Stomach Neoplasms	Associate	33328548, 36970058
Uterine Cervical Neoplasms	Associate	17504382, 23874974
Vitamin D Deficiency	Associate	15750208
Werner Syndrome	Associate	23650516, 23683351

RECQL4 (RecQ like helicase 4)