Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.39 0.300 0.885
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
ESR1 P03372 estrogen receptor 1 Nuclear receptor 1.00 0.324 0.962
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808
CDH1 P12830 cadherin 1 0.15 0.401 0.808
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808
ABCC1 P33527 ATP binding cassette subfamily C member 1 Transporter 1.2E-03 0.445 0.808
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
MUTYH Q9UIF7 mutY DNA glycosylase Enzyme 1.3E-18 0.521 0.769
CYTB P00156 cytochrome b 0.529 0.808
HOXB13 Q92826 homeobox B13 3.7E-08 0.573 0.462
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538