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	91	33	2020-05-20	PitAP
ALK	ALK receptor tyrosine kinase	2	p23.2-p23.1	1	249	108	2020-05-20	NBLST3
APC	APC regulator of WNT signaling pathway	5	q22.2	3	335	116	2020-06-26	FAP1
ATM	ATM serine/threonine kinase	11	q22.3	1	616	219	2020-05-20	AT, BrCa
BAP1	BRCA1 associated protein 1	3	p21.1	1	206	71	2020-06-29	TPDS
BARD1	BRCA1 associated RING domain 1	2	q35	1	6	3	2020-05-20	-
BLM	BLM RecQ like helicase	15	q26.1	1	247	99	2020-06-26	BLM
BMPR1A	bone morphogenetic protein receptor type 1A	10	q23.2	1	86	44	2020-05-20	JPS
BRCA1	BRCA1 DNA repair associated	17	q21.31	5	360	148	2020-06-29	BrCa, BROVCA1, FANCS, PNCA4
BRCA2	BRCA2 DNA repair associated	13	q13.1	1	598	221	2020-06-26	BrCa, BROVCA2, FANCD1, GLM3, MDB, PNCA2, PrCa, WT1
BRIP1	BRCA1 interacting protein C-terminal helicase 1	17	q23.2	1	178	75	2020-05-20	BrCa, FANCJ
BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	15	q15.1	1	172	65	2020-06-29	MVA1, PCS
CDC73	cell division cycle 73	1	q31.2	1	67	41	2020-05-20	HRPT1, HRPT2, PRTC
CDH1	cadherin 1	16	q22.1	1	235	61	2020-05-20	BCDS1, BrCa, CDH1, PrCa
CDK4	cyclin dependent kinase 4	12	q14.1	1	47	21	2020-05-20	CMM3
CDKN1C	cyclin dependent kinase inhibitor 1C	11	p15.4	3	44	25	2020-05-20	BWS, IMAGE
CDKN2A	cyclin dependent kinase inhibitor 2A	9	p21.3	4	46	26	2020-05-20	CMM2, MAS, MPCS
CEBPA	CCAAT enhancer binding protein alpha	19	q13.11	1	36	15	2020-05-20	AML
CEP57	centrosomal protein 57	11	q21	3	99	39	2020-06-05	MVA2
CHEK2	checkpoint kinase 2	22	q12.1	4	253	73	2020-06-26	BrCa, PrCa
CYLD	CYLD lysine 63 deubiquitinase	16	q12.1	3	79	36	2020-05-20	BRSS, FCyl, MFT1
DDB2	damage specific DNA binding protein 2	11	p11.2	1	73	31	2020-05-20	XPE
DICER1	dicer 1, ribonuclease III	14	q32.13	4	172	89	2020-05-20	MNG1, PPB, RMSE2
DIS3L2	DIS3 like 3'-5' exoribonuclease 2	2	q37.1	3	317	101	2020-05-20	PRLMNS
EGFR	epidermal growth factor receptor	7	p11.2	4	262	81	2020-05-20	LuCa, NISBD2
EPCAM	epithelial cell adhesion molecule	2	p21	1	111	44	2020-05-20	DIAR5, HNPCC8
ERCC2	ERCC excision repair 2, TFIIH core complex helicase subunit	19	q13.32	2	190	115	2020-06-29	COFS2, XPD
ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	2	q14.3	1	182	68	2020-06-26	TTD2, XPB
ERCC4	ERCC excision repair 4, endonuclease catalytic subunit	16	p13.12	1	159	58	2020-05-20	FANCQ, XFEPS, XPF
ERCC5	ERCC excision repair 5, endonuclease	13	q33.1	1	227	87	2020-06-29	COFS3, XPG
EXT1	exostosin glycosyltransferase 1	8	q24.11	1	50	28	2020-05-20	ChonSar, EXT1
EXT2	exostosin glycosyltransferase 2	11	p11.2	3	95	49	2020-06-29	EXT2, SSMS
EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	7	q36.1	5	109	60	2020-05-20	WVS
FANCA	FA complementation group A	16	q24.3	2	538	207	2020-06-29	FANCA
FANCB	FA complementation group B	X	p22.2	2	69	28	2020-05-20	FANCB
FANCC	FA complementation group C	9	q22.32	3	131	45	2020-05-20	FANCC
FANCD2	FA complementation group D2	3	p25.3	2	397	137	2020-06-29	FANCD2
FANCE	FA complementation group E	6	p21.31	1	139	46	2020-06-29	FANCE
FANCF	FA complementation group F	11	p14.3	1	76	23	2020-05-20	FANCF
FANCG	FA complementation group G	9	p13.3	1	71	38	2020-05-20	FANCG
FANCI	FA complementation group I	15	q26.1	2	331	127	2020-06-26	FANCI
FANCL	FA complementation group L	2	p16.1	2	103	40	2020-05-20	FANCL
FANCM	FA complementation group M	14	q21.2	1	250	116	2020-06-17	POF15, SPGF28
FH	fumarate hydratase	1	q43	1	67	43	2020-05-20	FMRD, HLRCC
FLCN	folliculin	17	p11.2	2	153	50	2020-05-20	BHD, PSP
GATA2	GATA binding protein 2	3	q21.3	3	32	23	2020-05-20	AML, EmbS, IMD21
GPC3	glypican 3	X	q26.2	4	68	22	2020-05-20	SGBS1
HNF1A	HNF1 homeobox A	12	q24.31	1	155	57	2020-05-20	IDDM, MODY3, NIDDM, RCC
HRAS	HRas proto-oncogene, GTPase	11	p15.5	3	46	20	2020-05-20	CSTLO
JAK2	Janus kinase 2	9	p24.1	0	0	0	N/A	-
KIT	KIT proto-oncogene, receptor tyrosine kinase	4	q12	2	228	67	2020-06-29	AML, GIST, MASTC, PBT
MAX	MYC associated factor X	14	q23.3	7	18	14	2020-05-20	Pheo
MEN1	menin 1	11	q13	7	76	33	2020-05-20	MEN1
MET	MET proto-oncogene, receptor tyrosine kinase	7	q31	2	194	71	2020-05-20	DFNB97, OSFD, RCCP1
MLH1	mutL homolog 1	3	p22.2	7	719	120	2020-06-29	HNPCC2, MMRCS, MRTES
MLPH	melanophilin	2	q37.3	4	0	0	2020-05-20	-
MSH2	mutS homolog 2	2	p21-p16.3	2	275	79	2020-05-20	HNPCC1, MMRCS, MRTES
MSH6	mutS homolog 6	2	p16.3	4	305	91	2020-06-24	ENC, HNPCC5, MMRCS
MUTYH	mutY DNA glycosylase	1	p34.1	6	167	59	2020-06-29	FAP2
NBN	nibrin	8	q21.3	1	106	51	2020-05-20	AplAn, NBS
NF1	neurofibromin 1	17	q11.2	3	1419	274	2020-06-26	NF1
NF2	neurofibromin 2	22	q12.2	9	74	40	2020-06-17	NF2
NSD1	nuclear receptor binding SET domain protein 1	5	q35.3	2	186	98	2020-05-20	AML, SOTOS1
NTHL1	nth like DNA glycosylase 1	16	p13.3	1	0	0	2020-05-20	BrCa, FAP3
PALB2	partner and localizer of BRCA2	16	p12.2	1	198	68	2020-05-20	BrCa, FANCN, PNCA3
PHOX2B	paired like homeobox 2B	4	p13	1	48	26	2020-05-20	CCHS, NBLST2
PMS1	PMS1 homolog 1, mismatch repair system component	2	q32.2	3	108	54	2020-05-20	-
PMS2	PMS1 homolog 2, mismatch repair system component	7	p22.1	1	360	96	2020-06-26	HNPCC4, MMRCS
PRF1	perforin 1	10	q22.1	2	145	39	2020-05-20	AplAn, FHL2, NHL
PRKAR1A	protein kinase cAMP-dependent type I regulatory subunit alpha	17	q24.2	5	77	30	2020-05-20	ACRDYS1, CNC1, InCardMyx, PPNAD1
PTCH1	patched 1	9	q22.32	7	304	114	2020-05-20	BCNS, HPE7
PTEN	phosphatase and tensin homolog	10	q23.31	1	79	17	2020-06-26	CWS1, FMNG, MCAS, VACTERL-H
RAD51C	RAD51 paralog C	17	q22	2	122	35	2020-06-26	BrCa, BROVCA3, FANCO
RAD51D	RAD51 paralog D	17	q12	3	38	27	2020-05-20	BrCa, BROVCA4
RB1	RB transcriptional corepressor 1	13	q14.2	1	364	89	2020-05-20	RB1
RECQL4	RecQ like helicase 4	8	q24.3	1	597	206	2020-06-29	BGS, RPDLN, RTS
RET	ret proto-oncogene	10	q11.21	2	195	100	2020-05-27	CCHS, HSCR1, MEN2A, MEN2B, MTC, Pheo
RHBDF2	rhomboid 5 homolog 2	17	q25.1	2	190	63	2020-05-20	TOC
RUNX1	RUNX family transcription factor 1	21	q22.12	3	70	24	2020-05-20	AML, FPDMM
SBDS	SBDS ribosome maturation factor	7	q11.21	1	124	28	2020-05-20	AplAn, SDS1
SDHAF2	succinate dehydrogenase complex assembly factor 2	11	q12.2	1	21	10	2020-05-20	PGL2
SDHB	succinate dehydrogenase complex iron sulfur subunit B	1	p36.13	1	123	26	2020-05-20	GIST, PGL2, PGL4, PGLGSS, Pheo
SDHC	succinate dehydrogenase complex subunit C	1	q23.3	5	82	28	2020-05-20	GIST, PGL3, PGLGSS
SDHD	succinate dehydrogenase complex subunit D	11	q23.1	4	42	12	2020-05-20	MC2D, PGL1, PGLGSS, Pheo
SLX4	SLX4 structure-specific endonuclease subunit	16	p13.3	1	469	157	2020-06-29	FANCP
SMAD4	SMAD family member 4	18	q21.2	1	104	37	2020-06-26	JPHT, JPS, MYHRS
SMARCB1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	22	q11.23	2	78	26	2020-06-05	CSS3, RTPS1, SWNTS1
STK11	serine/threonine kinase 11	19	p13.3	1	79	45	2020-05-20	PANCA, PJS
SUFU	SUFU negative regulator of hedgehog signaling	10	q24.32	2	119	28	2020-06-17	BCNS, FMNG, JBTS32, MDB
TMEM127	transmembrane protein 127	2	q11.2	2	23	13	2020-05-20	Pheo
TP53	tumor protein p53	17	p13.1	15	88	32	2020-05-20	ADCC, BCC7, BMFS5, BrCa, CPP, CRC, GLM1, LFS, OSRC
TSC1	TSC complex subunit 1	9	q34	3	174	74	2020-05-27	LAM, TSC1
TSC2	TSC complex subunit 2	16	p13.3	3	760	301	2020-06-29	LAM, TSC2
VHL	von Hippel-Lindau tumor suppressor	3	p25.3	2	40	21	2020-05-20	ECYT2, Pheo, VHL
WRN	WRN RecQ like helicase	8	p12	1	349	117	2020-05-20	WRN
WT1	WT1 transcription factor	11	p13	5	99	34	2020-06-05	DDS, FRSR, MCHM, NPHS4, WT1
XPA	XPA, DNA damage recognition and repair factor	9	q22.33	1	33	25	2020-05-20	XPA
XPC	XPC complex subunit, DNA damage recognition and repair factor	3	p25.1	2	238	68	2020-06-29	XPC