All genes

Legend

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98 entries on 1 page. Showing entries 1 - 98.

Symbol	Gene	Chr	Band	Transcripts	Variants	Unique variants	Last updated	Associated with diseases
AIP	aryl hydrocarbon receptor interacting protein	11	q13.2	1	106	34	2020-05-20	PitAP
ALK	ALK receptor tyrosine kinase	2	p23.2-p23.1	1	299	125	2020-10-01	NBLST3
APC	APC regulator of WNT signaling pathway	5	q22.2	3	454	171	2020-12-23	FAP1
ATM	ATM serine/threonine kinase	11	q22.3	1	775	254	2020-11-23	AT, BrCa
BAP1	BRCA1 associated protein 1	3	p21.1	1	243	80	2020-09-01	TPDS
BARD1	BRCA1 associated RING domain 1	2	q35	1	22	9	2020-10-19	-
BLM	BLM RecQ like helicase	15	q26.1	1	286	111	2020-10-07	BLM
BMPR1A	bone morphogenetic protein receptor type 1A	10	q23.2	1	101	49	2020-10-07	JPS
BRCA1	BRCA1 DNA repair associated	17	q21.31	5	1134	215	2020-12-24	BrCa, BROVCA1, FANCS, PNCA4
BRCA2	BRCA2 DNA repair associated	13	q13.1	1	937	285	2020-11-23	BrCa, BROVCA2, FANCD1, GLM3, MDB, PNCA2, PrCa, WT1
BRIP1	BRCA1 interacting protein C-terminal helicase 1	17	q23.2	1	209	87	2020-11-04	BrCa, FANCJ
BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	15	q15.1	1	199	74	2020-10-07	MVA1, PCS
CDC73	cell division cycle 73	1	q31.2	1	80	45	2020-05-20	HRPT1, HRPT2, PRTC
CDH1	cadherin 1	16	q22.1	1	288	74	2020-12-23	BCDS1, BrCa, CDH1, PrCa
CDK4	cyclin dependent kinase 4	12	q14.1	1	55	23	2020-05-20	CMM3
CDKN1C	cyclin dependent kinase inhibitor 1C	11	p15.4	3	48	25	2020-12-23	BWS, IMAGE
CDKN2A	cyclin dependent kinase inhibitor 2A	9	p21.3	4	52	28	2020-09-10	CMM2, MAS, MPCS
CEBPA	CCAAT enhancer binding protein alpha	19	q13.11	1	41	17	2020-05-20	AML
CEP57	centrosomal protein 57	11	q21	3	122	44	2020-06-05	MVA2
CHEK2	checkpoint kinase 2	22	q12.1	4	430	93	2020-12-23	BrCa, PrCa
CYLD	CYLD lysine 63 deubiquitinase	16	q12.1	3	98	41	2020-09-17	BRSS, FCyl, MFT1
DDB2	damage specific DNA binding protein 2	11	p11.2	1	85	35	2020-05-20	XPE
DICER1	dicer 1, ribonuclease III	14	q32.13	4	196	98	2020-10-07	MNG1, PPB, RMSE2
DIS3L2	DIS3 like 3'-5' exoribonuclease 2	2	q37.1	3	382	112	2020-12-23	PRLMNS
EGFR	epidermal growth factor receptor	7	p11.2	4	297	86	2020-12-23	LuCa, NISBD2
EPCAM	epithelial cell adhesion molecule	2	p21	1	127	50	2020-10-07	DIAR5, HNPCC8
ERCC2	ERCC excision repair 2, TFIIH core complex helicase subunit	19	q13.32	2	221	130	2020-09-17	COFS2, XPD
ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	2	q14.3	1	214	74	2020-10-07	TTD2, XPB
ERCC4	ERCC excision repair 4, endonuclease catalytic subunit	16	p13.12	1	184	62	2020-09-17	FANCQ, XFEPS, XPF
ERCC5	ERCC excision repair 5, endonuclease	13	q33.1	1	257	97	2020-10-07	COFS3, XPG
EXT1	exostosin glycosyltransferase 1	8	q24.11	1	57	31	2020-05-20	ChonSar, EXT1
EXT2	exostosin glycosyltransferase 2	11	p11.2	3	117	58	2020-10-01	EXT2, SSMS
EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	7	q36.1	5	119	63	2020-09-17	WVS
FANCA	FA complementation group A	16	q24.3	2	653	238	2020-10-07	FANCA
FANCB	FA complementation group B	X	p22.2	2	82	30	2020-10-07	FANCB
FANCC	FA complementation group C	9	q22.32	3	160	53	2020-10-01	FANCC
FANCD2	FA complementation group D2	3	p25.3	2	478	153	2020-12-23	FANCD2
FANCE	FA complementation group E	6	p21.31	1	159	52	2020-09-17	FANCE
FANCF	FA complementation group F	11	p14.3	1	83	24	2020-10-07	FANCF
FANCG	FA complementation group G	9	p13.3	1	77	41	2020-10-07	FANCG
FANCI	FA complementation group I	15	q26.1	2	402	135	2020-10-07	FANCI
FANCL	FA complementation group L	2	p16.1	2	122	47	2020-10-07	FANCL
FANCM	FA complementation group M	14	q21.2	1	295	128	2020-09-23	POF15, SPGF28
FH	fumarate hydratase	1	q43	1	78	46	2020-05-20	FMRD, HLRCC
FLCN	folliculin	17	p11.2	2	190	59	2020-11-15	BHD, PSP
GATA2	GATA binding protein 2	3	q21.3	3	41	30	2020-05-20	AML, EmbS, IMD21
GPC3	glypican 3	X	q26.2	4	81	26	2020-12-23	SGBS1
HNF1A	HNF1 homeobox A	12	q24.31	1	180	62	2020-05-20	IDDM, MODY3, NIDDM, RCC
HRAS	HRas proto-oncogene, GTPase	11	p15.5	3	52	21	2020-10-07	CSTLO
KIT	KIT proto-oncogene, receptor tyrosine kinase	4	q12	2	264	71	2020-06-29	AML, GIST, MASTC, PBT
MAX	MYC associated factor X	14	q23.3	7	24	18	2020-10-07	Pheo
MEN1	menin 1	11	q13	7	108	44	2020-12-23	MEN1
MET	MET proto-oncogene, receptor tyrosine kinase	7	q31	2	218	76	2020-11-12	DFNB97, OSFD, RCCP1
MLH1	mutL homolog 1	3	p22.2	7	887	139	2020-10-07	HNPCC2, MMRCS, MRTES
MSH2	mutS homolog 2	2	p21-p16.3	2	356	106	2020-12-23	HNPCC1, MMRCS, MRTES
MSH6	mutS homolog 6	2	p16.3	4	376	109	2020-11-23	ENC, HNPCC5, MMRCS
MUTYH	mutY DNA glycosylase	1	p34.1	6	274	74	2020-12-23	FAP2
NBN	nibrin	8	q21.3	1	139	58	2020-09-23	AplAn, NBS
NF1	neurofibromin 1	17	q11.2	3	536	234	2020-12-23	NF1
NF2	neurofibromin 2	22	q12.2	9	87	45	2020-10-01	NF2
NSD1	nuclear receptor binding SET domain protein 1	5	q35.3	2	219	109	2020-12-06	AML, SOTOS1
NTHL1	nth like DNA glycosylase 1	16	p13.3	1	4	1	2020-09-08	BrCa, FAP3
PALB2	partner and localizer of BRCA2	16	p12.2	1	286	85	2020-12-23	BrCa, FANCN, PNCA3
PHOX2B	paired like homeobox 2B	4	p13	1	53	28	2020-09-08	CCHS, NBLST2
PMS1	PMS1 homolog 1, mismatch repair system component	2	q32.2	3	126	61	2020-05-20	-
PMS2	PMS1 homolog 2, mismatch repair system component	7	p22.1	1	421	108	2020-10-07	HNPCC4, MMRCS
PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	17	q23.3	1	28	16	2020-11-02	-
PRF1	perforin 1	10	q22.1	2	176	41	2020-05-20	AplAn, FHL2, NHL
PRKAR1A	protein kinase cAMP-dependent type I regulatory subunit alpha	17	q24.2	5	97	32	2020-05-20	ACRDYS1, CNC1, InCardMyx, PPNAD1
PTCH1	patched 1	9	q22.32	7	362	132	2020-10-07	BCNS, HPE7
PTEN	phosphatase and tensin homolog	10	q23.31	1	103	23	2020-12-23	CWS1, FMNG, MCAS, VACTERL-H
RAD51C	RAD51 paralog C	17	q22	2	154	40	2020-10-27	BrCa, BROVCA3, FANCO
RAD51D	RAD51 paralog D	17	q12	3	48	34	2020-10-27	BrCa, BROVCA4
RB1	RB transcriptional corepressor 1	13	q14.2	1	411	95	2020-08-31	RB1
RECQL4	RecQ like helicase 4	8	q24.3	1	722	232	2020-12-23	BGS, RPDLN, RTS
RET	ret proto-oncogene	10	q11.21	2	262	118	2020-12-23	CCHS, HSCR1, MEN2A, MEN2B, MTC, Pheo
RHBDF2	rhomboid 5 homolog 2	17	q25.1	2	223	74	2020-10-07	TOC
RUNX1	RUNX family transcription factor 1	21	q22.12	3	79	29	2020-05-20	AML, FPDMM
SBDS	SBDS ribosome maturation factor	7	q11.21	1	147	31	2020-10-19	AplAn, SDS1
SDHAF2	succinate dehydrogenase complex assembly factor 2	11	q12.2	1	28	13	2020-05-20	PGL2
SDHB	succinate dehydrogenase complex iron sulfur subunit B	1	p36.13	1	168	36	2020-11-02	GIST, PGL2, PGL4, PGLGSS, Pheo
SDHC	succinate dehydrogenase complex subunit C	1	q23.3	5	96	28	2020-09-17	GIST, PGL3, PGLGSS
SDHD	succinate dehydrogenase complex subunit D	11	q23.1	4	49	13	2020-10-07	MC2D, PGL1, PGLGSS, Pheo
SLX4	SLX4 structure-specific endonuclease subunit	16	p13.3	1	558	174	2020-12-23	FANCP
SMAD4	SMAD family member 4	18	q21.2	1	119	42	2020-09-17	JPHT, JPS, MYHRS
SMARCA4	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	19	p13.2	7	4	1	2020-09-24	OVCA
SMARCB1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	22	q11.23	2	87	27	2020-06-05	CSS3, RTPS1, SWNTS1
STK11	serine/threonine kinase 11	19	p13.3	1	111	65	2020-11-09	PANCA, PJS
SUFU	SUFU negative regulator of hedgehog signaling	10	q24.32	2	139	30	2020-11-10	BCNS, FMNG, JBTS32, MDB
TMEM127	transmembrane protein 127	2	q11.2	2	27	16	2020-05-20	Pheo
TP53	tumor protein p53	17	p13.1	15	132	45	2020-11-23	ADCC, BCC7, BMFS5, BrCa, CPP, CRC, GLM1, LFS, OSRC
TSC1	TSC complex subunit 1	9	q34	3	217	85	2020-05-27	LAM, TSC1
TSC2	TSC complex subunit 2	16	p13.3	3	902	323	2020-12-23	LAM, TSC2
VHL	von Hippel-Lindau tumor suppressor	3	p25.3	2	76	38	2020-11-23	ECYT2, Pheo, VHL
WRN	WRN RecQ like helicase	8	p12	1	422	135	2020-10-07	WRN
WT1	WT1 transcription factor	11	p13	5	115	39	2020-06-05	DDS, FRSR, MCHM, NPHS4, WT1
XPA	XPA, DNA damage recognition and repair factor	9	q22.33	1	37	26	2020-05-20	XPA
XPC	XPC complex subunit, DNA damage recognition and repair factor	3	p25.1	2	268	73	2020-10-19	XPC