Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALK Q9UM73 ALK receptor tyrosine kinase Kinase 3.2E-06 0.396 0.846
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
BTK Q06187 Bruton tyrosine kinase Kinase 1.00 0.464 0.808
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
ERBB2 P04626 erb-b2 receptor tyrosine kinase 2 Kinase 6.0E-03 0.328 0.923
ERBB3 P21860 erb-b2 receptor tyrosine kinase 3 Kinase 1.7E-15 0.448 0.808
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962
FBXW7 Q969H0 F-box and WD repeat domain containing 7 Enzyme modulator 1.00 0.465 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR4 P22455 fibroblast growth factor receptor 4 Kinase 7.2E-13 0.490 0.769
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885
IDH1 O75874 isocitrate dehydrogenase (NADP(+)) 1 2.6E-12 0.424 0.808
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
POLE Q07864 DNA polymerase epsilon, catalytic subunit 8.0E-27 0.526 0.731