|
|
 Symbol
|
 Gene
|
Chr
|
Band
|
Transcripts
|
Variants
|
Unique variants
|
Last updated
|
Associated with diseases
|
| AIP |
aryl hydrocarbon receptor interacting protein |
11 |
q13.2 |
1 |
1 |
1 |
2020-11-09 |
- |
| AKT1 |
AKT serine/threonine kinase 1 |
14 |
q32.33 |
1 |
0 |
0 |
N/A |
- |
| ALK |
ALK receptor tyrosine kinase |
2 |
p23.2-p23.1 |
1 |
13 |
13 |
2021-07-26 |
- |
| APC |
adenomatous polyposis coli |
5 |
q21-q22 |
2 |
163 |
49 |
2021-10-06 |
- |
| ASS1 |
argininosuccinate synthase 1 |
9 |
q34.11 |
1 |
0 |
0 |
N/A |
- |
| ATM |
ATM serine/threonine kinase |
11 |
q22.3 |
1 |
216 |
99 |
2022-02-08 |
- |
| AXIN2 |
axin 2 |
17 |
q24.1 |
1 |
2 |
2 |
2020-11-09 |
- |
| BAP1 |
BRCA1 associated protein 1 |
3 |
p21.1 |
1 |
9 |
9 |
2021-08-03 |
- |
| BARD1 |
BRCA1 associated RING domain 1 |
2 |
q35 |
1 |
114 |
24 |
2021-11-09 |
- |
| BLM |
BLM RecQ like helicase |
15 |
q26.1 |
1 |
3 |
3 |
2021-11-24 |
- |
| BMPR1A |
bone morphogenetic protein receptor type 1A |
10 |
q23.2 |
1 |
8 |
6 |
2021-10-06 |
- |
| BRCA1 |
BRCA1, DNA repair associated |
17 |
q21.31 |
1 |
2946 |
176 |
2021-11-24 |
- |
| BRCA2 |
BRCA2, DNA repair associated |
13 |
q13.1 |
1 |
3251 |
222 |
2022-02-21 |
- |
| BRIP1 |
BRCA1 interacting protein C-terminal helicase 1 |
17 |
q23.2 |
1 |
99 |
19 |
2021-09-29 |
- |
| CASR |
calcium sensing receptor |
3 |
q13.33-q21.1 |
1 |
2 |
2 |
2020-11-09 |
- |
| CDC73 |
cell division cycle 73 |
1 |
q31.2 |
2 |
1 |
1 |
2021-09-21 |
- |
| CDH1 |
cadherin 1 |
16 |
q22.1 |
1 |
100 |
19 |
2021-12-14 |
- |
| CDK4 |
cyclin dependent kinase 4 |
12 |
q14.1 |
0 |
0 |
0 |
N/A |
- |
| CDKN1B |
cyclin dependent kinase inhibitor 1B |
12 |
p13.1 |
1 |
1 |
1 |
2020-08-10 |
- |
| CDKN1C |
cyclin dependent kinase inhibitor 1C |
11 |
p15.4 |
1 |
2 |
2 |
2020-11-09 |
- |
| CDKN2A |
cyclin dependent kinase inhibitor 2A |
9 |
p21.3 |
1 |
3 |
2 |
2021-09-29 |
- |
| CEBPA |
CCAAT enhancer binding protein alpha |
19 |
q13.11 |
1 |
3 |
2 |
2020-08-12 |
- |
| CHEK2 |
checkpoint kinase 2 |
22 |
q12.1 |
2 |
67 |
41 |
2021-11-24 |
- |
| CTNNA1 |
catenin alpha 1 |
5 |
q31.2 |
1 |
1 |
1 |
2020-08-10 |
- |
| DICER1 |
dicer 1, ribonuclease III |
14 |
q32.13 |
2 |
5 |
4 |
2021-09-20 |
- |
| DIS3L2 |
DIS3 like 3'-5' exoribonuclease 2 |
2 |
q37.1 |
1 |
4 |
4 |
2021-07-30 |
- |
| EGFR |
epidermal growth factor receptor |
7 |
p11.2 |
1 |
4 |
4 |
2020-11-09 |
- |
| EGLN1 |
egl-9 family hypoxia inducible factor 1 |
1 |
q42.2 |
1 |
0 |
0 |
N/A |
- |
| EPCAM |
epithelial cell adhesion molecule |
2 |
p21 |
1 |
42 |
13 |
2021-11-09 |
- |
| FANCC |
FA complementation group C |
9 |
q22.32 |
1 |
3 |
3 |
2021-08-13 |
- |
| FANCI |
FA complementation group I |
15 |
q26.1 |
1 |
1 |
1 |
2021-09-21 |
- |
| FANCM |
FA complementation group M |
14 |
q21.2 |
1 |
13 |
12 |
2021-11-24 |
- |
| FH |
fumarate hydratase |
1 |
q43 |
1 |
4 |
4 |
2020-08-10 |
- |
| FLCN |
folliculin |
17 |
p11.2 |
2 |
10 |
6 |
2021-11-09 |
- |
| GATA2 |
GATA binding protein 2 |
3 |
q21.3 |
1 |
2 |
2 |
2020-11-09 |
- |
| GREM1 |
gremlin 1, DAN family BMP antagonist |
15 |
q13.3 |
1 |
1 |
1 |
2021-08-26 |
- |
| HFE |
homeostatic iron regulator |
6 |
p22.2 |
2 |
0 |
0 |
N/A |
- |
| HOXB13 |
homeobox B13 |
17 |
q21.32 |
1 |
1 |
1 |
2021-07-26 |
- |
| HRAS |
HRas proto-oncogene, GTPase |
11 |
p15.5 |
1 |
1 |
1 |
2020-11-09 |
- |
| KIF1B |
kinesin family member 1B |
1 |
p36.22 |
1 |
0 |
0 |
N/A |
- |
| LZTR1 |
leucine zipper like transcription regulator 1 |
22 |
q11.21 |
1 |
1 |
1 |
2020-09-07 |
- |
| MAX |
MYC associated factor X |
14 |
q23.3 |
1 |
0 |
0 |
N/A |
- |
| MEN1 |
menin 1 |
11 |
q13 |
1 |
2 |
2 |
2020-11-20 |
- |
| MET |
MET proto-oncogene, receptor tyrosine kinase |
7 |
q31 |
2 |
14 |
5 |
2021-10-19 |
- |
| MITF |
melanogenesis associated transcription factor |
3 |
p13 |
1 |
1 |
1 |
2021-09-21 |
- |
| MLH1 |
mutL homolog 1 |
3 |
p22.3 |
1 |
233 |
68 |
2022-05-02 |
- |
| MSH2 |
mutS homolog 2 |
2 |
p21 |
1 |
209 |
58 |
2021-11-24 |
- |
| MSH3 |
mutS homolog 3 |
5 |
q14.1 |
1 |
4 |
4 |
2021-08-09 |
- |
| MSH6 |
mutS homolog 6 |
2 |
p16 |
1 |
331 |
49 |
2021-11-24 |
- |
| MUTYH |
mutY DNA glycosylase |
1 |
p34.1 |
2 |
125 |
26 |
2022-05-03 |
- |
| MYCN |
MYCN proto-oncogene, bHLH transcription factor |
2 |
p24.3 |
1 |
0 |
0 |
N/A |
- |
| NBAS |
NBAS subunit of NRZ tethering complex |
2 |
p24.3 |
1 |
0 |
0 |
N/A |
- |
| NBN |
nibrin |
8 |
q21.3 |
1 |
108 |
20 |
2021-09-24 |
- |
| NF1 |
neurofibromin 1 |
17 |
q11.2 |
2 |
26 |
15 |
2021-12-14 |
- |
| NF2 |
neurofibromin 2 |
22 |
q12.2 |
1 |
2 |
2 |
2020-08-31 |
- |
| NTHL1 |
nth like DNA glycosylase 1 |
16 |
p13.3 |
1 |
2 |
2 |
2021-11-24 |
- |
| PALB2 |
partner and localizer of BRCA2 |
16 |
p12.2 |
1 |
125 |
38 |
2021-12-14 |
- |
| PDGFRA |
platelet derived growth factor receptor alpha |
4 |
q12 |
1 |
8 |
8 |
2020-11-20 |
- |
| PHOX2B |
paired like homeobox 2B |
4 |
p13 |
1 |
1 |
1 |
2020-11-20 |
- |
| PMS1 |
PMS1 homolog 1, mismatch repair system component |
2 |
q32.2 |
1 |
1 |
1 |
2021-09-17 |
- |
| PMS2 |
PMS1 homolog 2, mismatch repair system component |
7 |
p22.1 |
1 |
338 |
57 |
2021-12-14 |
- |
| POLD1 |
DNA polymerase delta 1, catalytic subunit |
19 |
q13.3 |
1 |
9 |
9 |
2021-12-14 |
- |
| POLE |
DNA polymerase epsilon, catalytic subunit |
12 |
q24.33 |
1 |
19 |
16 |
2021-11-24 |
- |
| POLG |
DNA polymerase gamma, catalytic subunit |
15 |
q26.1 |
1 |
0 |
0 |
2019-07-12 |
- |
| POT1 |
protection of telomeres 1 |
7 |
q31.33 |
1 |
1 |
1 |
2020-11-20 |
- |
| PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
17 |
q24.2 |
0 |
0 |
0 |
N/A |
- |
| PTCH1 |
patched 1 |
9 |
q22.32 |
1 |
4 |
4 |
2021-09-29 |
- |
| PTEN |
phosphatase and tensin homolog |
10 |
q23.31 |
1 |
17 |
9 |
2020-12-23 |
- |
| RAD50 |
RAD50 double strand break repair protein |
5 |
q31.1 |
1 |
11 |
8 |
2021-12-14 |
- |
| RAD51C |
RAD51 paralog C |
17 |
q22 |
2 |
12 |
10 |
2021-11-30 |
- |
| RAD51D |
RAD51 paralog D |
17 |
q12 |
2 |
21 |
11 |
2021-12-14 |
- |
| RB1 |
RB transcriptional corepressor 1 |
13 |
q14.2 |
1 |
4 |
4 |
2021-10-20 |
- |
| RECQL |
RecQ like helicase |
12 |
p12.1 |
1 |
2 |
2 |
2020-11-20 |
- |
| RECQL4 |
RecQ like helicase 4 |
8 |
q24.3 |
1 |
6 |
6 |
2021-09-07 |
- |
| RET |
ret proto-oncogene |
10 |
q11.21 |
2 |
13 |
9 |
2020-12-23 |
- |
| RINT1 |
RAD50 interactor 1 |
7 |
q22.3 |
2 |
1 |
1 |
2021-08-26 |
- |
| SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
5 |
p15.33 |
1 |
2 |
2 |
2020-11-20 |
- |
| SDHAF2 |
succinate dehydrogenase complex assembly factor 2 |
11 |
q12.2 |
1 |
0 |
0 |
N/A |
- |
| SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
1 |
p36.13 |
1 |
6 |
4 |
2020-12-22 |
- |
| SDHC |
succinate dehydrogenase complex subunit C |
1 |
q23.3 |
1 |
1 |
1 |
2020-08-12 |
- |
| SDHD |
succinate dehydrogenase complex subunit D |
11 |
q23.1 |
1 |
2 |
1 |
2020-05-15 |
- |
| SMAD4 |
SMAD family member 4 |
18 |
q21.2 |
1 |
4 |
3 |
2021-11-24 |
- |
| SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
22 |
q11.23 |
1 |
1 |
1 |
2020-11-20 |
- |
| SPRED1 |
sprouty related EVH1 domain containing 1 |
15 |
q14 |
1 |
0 |
0 |
N/A |
- |
| STK11 |
serine/threonine kinase 11 |
19 |
p13.3 |
1 |
26 |
16 |
2021-08-02 |
- |
| SUFU |
SUFU negative regulator of hedgehog signaling |
10 |
q24.32 |
1 |
2 |
2 |
2021-11-24 |
- |
| TMEM127 |
transmembrane protein 127 |
2 |
q11.2 |
1 |
1 |
1 |
2020-11-20 |
- |
| TP53 |
tumor protein p53 |
17 |
p13.1 |
1 |
74 |
20 |
2022-02-08 |
- |
| TSC1 |
tuberous sclerosis 1 |
9 |
q34 |
1 |
6 |
6 |
2021-09-13 |
- |
| TSC2 |
tuberous sclerosis 2 |
16 |
p13.3 |
1 |
2 |
2 |
2020-11-09 |
- |
| VHL |
von Hippel-Lindau tumor suppressor |
3 |
p25.3 |
1 |
13 |
9 |
2020-06-26 |
- |
| WRN |
WRN RecQ like helicase |
8 |
p12 |
1 |
7 |
7 |
2021-07-27 |
- |
| WT1 |
WT1 transcription factor |
11 |
p13 |
1 |
3 |
3 |
2020-11-20 |
- |
|
|
