|
|
 Symbol
|
 Gene
|
Chr
|
Band
|
Transcripts
|
Variants
|
Unique variants
|
Last updated
|
Associated with diseases
|
| 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 |
1 |
1 |
2020-06-17 |
- |
| APC |
adenomatous polyposis coli |
5 |
q21-q22 |
2 |
133 |
37 |
2020-09-21 |
- |
| ATM |
ATM serine/threonine kinase |
11 |
q22.3 |
1 |
162 |
73 |
2020-09-21 |
- |
| BAP1 |
BRCA1 associated protein 1 |
3 |
p21.1 |
1 |
6 |
6 |
2020-08-21 |
- |
| BARD1 |
BRCA1 associated RING domain 1 |
2 |
q35 |
1 |
51 |
19 |
2020-09-14 |
- |
| BLM |
BLM RecQ like helicase |
15 |
q26.1 |
1 |
1 |
1 |
2019-07-15 |
- |
| BMPR1A |
bone morphogenetic protein receptor type 1A |
10 |
q23.2 |
1 |
4 |
3 |
2020-07-22 |
- |
| BRCA1 |
BRCA1, DNA repair associated |
17 |
q21.31 |
1 |
2788 |
161 |
2020-09-28 |
- |
| BRCA2 |
BRCA2, DNA repair associated |
13 |
q13.1 |
1 |
3086 |
199 |
2020-09-28 |
- |
| BRIP1 |
BRCA1 interacting protein C-terminal helicase 1 |
17 |
q23.2 |
1 |
73 |
15 |
2020-09-21 |
- |
| CDH1 |
cadherin 1 |
16 |
q22.1 |
1 |
78 |
17 |
2020-09-21 |
- |
| 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 |
- |
| CDKN2A |
cyclin dependent kinase inhibitor 2A |
9 |
p21.3 |
1 |
0 |
0 |
N/A |
- |
| CEBPA |
CCAAT enhancer binding protein alpha |
19 |
q13.11 |
1 |
3 |
2 |
2020-08-12 |
- |
| CHEK2 |
checkpoint kinase 2 |
22 |
q12.1 |
2 |
43 |
32 |
2020-09-14 |
- |
| CTNNA1 |
catenin alpha 1 |
5 |
q31.2 |
1 |
1 |
1 |
2020-08-10 |
- |
| DICER1 |
dicer 1, ribonuclease III |
14 |
q32.13 |
2 |
3 |
3 |
2020-08-12 |
- |
| DIS3L2 |
DIS3 like 3'-5' exoribonuclease 2 |
2 |
q37.1 |
1 |
2 |
2 |
2020-06-29 |
- |
| EGLN1 |
egl-9 family hypoxia inducible factor 1 |
1 |
q42.2 |
1 |
0 |
0 |
N/A |
- |
| EPCAM |
epithelial cell adhesion molecule |
2 |
p21 |
1 |
31 |
10 |
2020-08-24 |
- |
| FANCC |
FA complementation group C |
9 |
q22.32 |
1 |
2 |
2 |
2020-05-15 |
- |
| FANCM |
FA complementation group M |
14 |
q21.2 |
1 |
6 |
6 |
2020-06-23 |
- |
| FH |
fumarate hydratase |
1 |
q43 |
1 |
4 |
4 |
2020-08-10 |
- |
| FLCN |
folliculin |
17 |
p11.2 |
2 |
7 |
5 |
2020-08-28 |
- |
| GREM1 |
gremlin 1, DAN family BMP antagonist |
15 |
q13.3 |
1 |
0 |
0 |
N/A |
- |
| 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 |
0 |
0 |
0 |
N/A |
- |
| MET |
MET proto-oncogene, receptor tyrosine kinase |
7 |
q31 |
1 |
9 |
3 |
2020-07-07 |
- |
| MITF |
melanogenesis associated transcription factor |
3 |
p13 |
1 |
0 |
0 |
N/A |
- |
| MLH1 |
mutL homolog 1 |
3 |
p22.3 |
1 |
204 |
59 |
2020-09-21 |
- |
| MSH2 |
mutS homolog 2 |
2 |
p21 |
1 |
168 |
46 |
2020-09-21 |
- |
| MSH6 |
mutS homolog 6 |
2 |
p16 |
1 |
300 |
45 |
2020-09-17 |
- |
| MUTYH |
mutY DNA glycosylase |
1 |
p34.1 |
2 |
108 |
23 |
2020-09-18 |
- |
| 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 |
79 |
18 |
2020-09-21 |
- |
| NF1 |
neurofibromin 1 |
17 |
q11.2 |
1 |
17 |
10 |
2020-09-21 |
- |
| NF2 |
neurofibromin 2 |
22 |
q12.2 |
1 |
2 |
2 |
2020-08-31 |
- |
| PALB2 |
partner and localizer of BRCA2 |
16 |
p12.2 |
1 |
64 |
20 |
2020-09-14 |
- |
| PDGFRA |
platelet derived growth factor receptor alpha |
4 |
q12 |
1 |
1 |
1 |
2020-08-12 |
- |
| PMS1 |
PMS1 homolog 1, mismatch repair system component |
2 |
q32.2 |
1 |
0 |
0 |
N/A |
- |
| PMS2 |
PMS1 homolog 2, mismatch repair system component |
7 |
p22.1 |
1 |
263 |
43 |
2020-09-21 |
- |
| POLD1 |
DNA polymerase delta 1, catalytic subunit |
19 |
q13.3 |
1 |
2 |
2 |
2020-05-11 |
- |
| POLE |
DNA polymerase epsilon, catalytic subunit |
12 |
q24.33 |
1 |
6 |
6 |
2020-06-01 |
- |
| POLG |
DNA polymerase gamma, catalytic subunit |
15 |
q26.1 |
1 |
0 |
0 |
2019-07-12 |
- |
| PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
17 |
q24.2 |
0 |
0 |
0 |
N/A |
- |
| PTEN |
phosphatase and tensin homolog |
10 |
q23.31 |
1 |
2 |
1 |
2020-09-21 |
- |
| RAD50 |
RAD50 double strand break repair protein |
5 |
q31.1 |
1 |
4 |
4 |
2020-08-31 |
- |
| RAD51C |
RAD51 paralog C |
17 |
q22 |
2 |
5 |
5 |
2020-07-20 |
- |
| RAD51D |
RAD51 paralog D |
17 |
q12 |
2 |
10 |
4 |
2020-09-17 |
- |
| RB1 |
RB transcriptional corepressor 1 |
13 |
q14.2 |
1 |
1 |
1 |
2020-08-10 |
- |
| RECQL |
RecQ like helicase |
12 |
p12.1 |
1 |
1 |
1 |
2019-10-21 |
- |
| RET |
ret proto-oncogene |
10 |
q11.21 |
2 |
11 |
8 |
2019-07-15 |
- |
| SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
5 |
p15.33 |
1 |
1 |
1 |
2020-08-10 |
- |
| 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 |
5 |
4 |
2020-08-31 |
- |
| 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 |
3 |
2 |
2020-09-07 |
- |
| SPRED1 |
sprouty related EVH1 domain containing 1 |
15 |
q14 |
1 |
0 |
0 |
N/A |
- |
| STK11 |
serine/threonine kinase 11 |
19 |
p13.3 |
1 |
20 |
13 |
2020-09-21 |
- |
| TMEM127 |
transmembrane protein 127 |
2 |
q11.2 |
1 |
0 |
0 |
N/A |
- |
| TP53 |
tumor protein p53 |
17 |
p13.1 |
1 |
52 |
13 |
2020-09-28 |
- |
| TSC1 |
tuberous sclerosis 1 |
9 |
q34 |
1 |
4 |
4 |
2020-03-27 |
- |
| TSC2 |
tuberous sclerosis 2 |
16 |
p13.3 |
1 |
1 |
1 |
2020-07-07 |
- |
| VHL |
von Hippel-Lindau tumor suppressor |
3 |
p25.3 |
1 |
13 |
9 |
2020-06-26 |
- |
| WRN |
WRN RecQ like helicase |
8 |
p12 |
1 |
3 |
3 |
2020-09-28 |
- |
| WT1 |
WT1 transcription factor |
11 |
p13 |
1 |
1 |
1 |
2020-08-10 |
- |
|
|
