Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRNT tRNA 0.729 0.538
CYTB P00156 cytochrome b 0.529 0.808
BUB1B-PAK6 Q9NQU5 BUB1B-PAK6 readthrough 0.805 0.269
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
RAD50 Q92878 RAD50 double strand break repair protein 3.4E-27 0.556 0.808
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
CHEK2 O96017 checkpoint kinase 2 Kinase 1.2E-24 0.460 0.808
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538
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
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808
FANCM Q8IYD8 FA complementation group M Enzyme 2.4E-15 0.543 0.731
C11orf65 Q8NCR3 chromosome 11 open reading frame 65 2.0E-14 0.670 0.462
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808
BUB1B O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 7.0E-10 0.502 0.808
RAD51D O75771 RAD51 paralog D 1.1E-09 0.674 0.385
CHEK1 O14757 checkpoint kinase 1 Kinase 3.1E-08 0.492 0.808
XRCC2 O43543 X-ray repair cross complementing 2 4.0E-07 0.512 0.731
ABRAXAS1 Q6UWZ7 abraxas 1, BRCA1 A complex subunit 5.1E-07 0.760 0.269
PRKN O60260 parkin RBR E3 ubiquitin protein ligase Enzyme 6.9E-07 0.431 0.846
MSH6 P52701 mutS homolog 6 Nucleic acid binding 3.7E-05 0.462 0.731
PAK6 Q9NQU5 p21 (RAC1) activated kinase 6 4.3E-05 0.729 0.385