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PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm]
Stable Identifier
R-HSA-9704406
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
nucleoplasm
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of DNA repair (Homo sapiens)
Diseases of DNA Double-Strand Break Repair (Homo sapiens)
Defective homologous recombination repair (HRR) due to PALB2 loss of function (Homo sapiens)
Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function (Homo sapiens)
Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in binding to BRCA2/RAD51/RAD51C (Homo sapiens)
PALB2 mutants (BRCA2/RAD51/RAD51C binding) [nucleoplasm] (Homo sapiens)
Participants
members
PALB2 W912G [nucleoplasm]
(Homo sapiens)
PALB2 G937R [nucleoplasm]
(Homo sapiens)
PALB2 L939W [nucleoplasm]
(Homo sapiens)
PALB2 I944N [nucleoplasm]
(Homo sapiens)
PALB2 L947F [nucleoplasm]
(Homo sapiens)
PALB2 L947S [nucleoplasm]
(Homo sapiens)
PALB2 L961P [nucleoplasm]
(Homo sapiens)
PALB2 T1030I [nucleoplasm]
(Homo sapiens)
PALB2 G1043A [nucleoplasm]
(Homo sapiens)
PALB2 G1043D [nucleoplasm]
(Homo sapiens)
PALB2 L1070P [nucleoplasm]
(Homo sapiens)
PALB2 L1119P [nucleoplasm]
(Homo sapiens)
PALB2 W1140G [nucleoplasm]
(Homo sapiens)
PALB2 L1143P [nucleoplasm]
(Homo sapiens)
PALB2 Y551* [nucleoplasm]
(Homo sapiens)
PALB2 C77Vfs*100 [nucleoplasm]
(Homo sapiens)
PALB2 L531Cfs*30 [nucleoplasm]
(Homo sapiens)
PALB2 T841Qfs*10 [nucleoplasm]
(Homo sapiens)
candidates
PALB2 E1002* [nucleoplasm]
(Homo sapiens)
PALB2 E263* [nucleoplasm]
(Homo sapiens)
PALB2 E384* [nucleoplasm]
(Homo sapiens)
PALB2 E545* [nucleoplasm]
(Homo sapiens)
PALB2 E658* [nucleoplasm]
(Homo sapiens)
PALB2 E667* [nucleoplasm]
(Homo sapiens)
PALB2 E860* [nucleoplasm]
(Homo sapiens)
PALB2 E884* [nucleoplasm]
(Homo sapiens)
PALB2 E943* [nucleoplasm]
(Homo sapiens)
PALB2 E956* [nucleoplasm]
(Homo sapiens)
PALB2 G796* [nucleoplasm]
(Homo sapiens)
PALB2 G808* [nucleoplasm]
(Homo sapiens)
PALB2 K346* [nucleoplasm]
(Homo sapiens)
PALB2 L451* [nucleoplasm]
(Homo sapiens)
PALB2 L857* [nucleoplasm]
(Homo sapiens)
PALB2 Q1056* [nucleoplasm]
(Homo sapiens)
PALB2 Q1091* [nucleoplasm]
(Homo sapiens)
PALB2 Q228* [nucleoplasm]
(Homo sapiens)
PALB2 Q370* [nucleoplasm]
(Homo sapiens)
PALB2 Q559* [nucleoplasm]
(Homo sapiens)
PALB2 Q613* [nucleoplasm]
(Homo sapiens)
PALB2 Q66* [nucleoplasm]
(Homo sapiens)
PALB2 Q822* [nucleoplasm]
(Homo sapiens)
PALB2 R414* [nucleoplasm]
(Homo sapiens)
PALB2 R753* [nucleoplasm]
(Homo sapiens)
PALB2 S254* [nucleoplasm]
(Homo sapiens)
PALB2 S518* [nucleoplasm]
(Homo sapiens)
PALB2 W1038* [nucleoplasm]
(Homo sapiens)
PALB2 W575* [nucleoplasm]
(Homo sapiens)
PALB2 Y409* [nucleoplasm]
(Homo sapiens)
PALB2 A935* [nucleoplasm]
(Homo sapiens)
PALB2 E1010* [nucleoplasm]
(Homo sapiens)
PALB2 E956Kfs*6 [nucleoplasm]
(Homo sapiens)
PALB2 F404Sfs*7 [nucleoplasm]
(Homo sapiens)
PALB2 F440Lfs*12 [nucleoplasm]
(Homo sapiens)
PALB2 F606Sfs*10 [nucleoplasm]
(Homo sapiens)
PALB2 F816Sfs*35 [nucleoplasm]
(Homo sapiens)
PALB2 H130Tfs*47 [nucleoplasm]
(Homo sapiens)
PALB2 H432Ffs*9 [nucleoplasm]
(Homo sapiens)
PALB2 I1035Mfs*6 [nucleoplasm]
(Homo sapiens)
PALB2 I265Tfs*5 [nucleoplasm]
(Homo sapiens)
PALB2 I281Nfs*2 [nucleoplasm]
(Homo sapiens)
PALB2 I429Rfs*22 [nucleoplasm]
(Homo sapiens)
PALB2 I76Mfs*4 [nucleoplasm]
(Homo sapiens)
PALB2 I76Yfs*101 [nucleoplasm]
(Homo sapiens)
PALB2 K43Rfs*10 [nucleoplasm]
(Homo sapiens)
PALB2 L1006Ffs*5 [nucleoplasm]
(Homo sapiens)
PALB2 L176Nfs*3 [nucleoplasm]
(Homo sapiens)
PALB2 L304* [nucleoplasm]
(Homo sapiens)
PALB2 M296* [nucleoplasm]
(Homo sapiens)
PALB2 M296Nfs*7 [nucleoplasm]
(Homo sapiens)
PALB2 M723Vfs*21 [nucleoplasm]
(Homo sapiens)
PALB2 N280Tfs*8 [nucleoplasm]
(Homo sapiens)
PALB2 N450Ifs*2 [nucleoplasm]
(Homo sapiens)
PALB2 P1009Lfs*6 [nucleoplasm]
(Homo sapiens)
PALB2 P522Qfs*39 [nucleoplasm]
(Homo sapiens)
PALB2 P656Qfs*4 [nucleoplasm]
(Homo sapiens)
PALB2 Q60Rfs*7 [nucleoplasm]
(Homo sapiens)
PALB2 R37Cfs*5 [nucleoplasm]
(Homo sapiens)
PALB2 R794Sfs*57 [nucleoplasm]
(Homo sapiens)
PALB2 S299Yfs*3 [nucleoplasm]
(Homo sapiens)
PALB2 W898Efs*29 [nucleoplasm]
(Homo sapiens)
PALB2 W877Gfs*12 [nucleoplasm]
(Homo sapiens)
PALB2 Y1183* [nucleoplasm]
(Homo sapiens)
PALB2 V132Afs*45 [nucleoplasm]
(Homo sapiens)
PALB2 L253Yfs*26 [nucleoplasm]
(Homo sapiens)
PALB2 T799Lfs*53 [nucleoplasm]
(Homo sapiens)
PALB2 Q988* [nucleoplasm]
(Homo sapiens)
PALB2 N1039Ifs*2 [nucleoplasm]
(Homo sapiens)
PALB2 K1098Nfs*23 [nucleoplasm]
(Homo sapiens)
PALB2 A995Cfs*16 [nucleoplasm]
(Homo sapiens)
PALB2 G1043C [nucleoplasm]
(Homo sapiens)
PALB2 I1037T [nucleoplasm]
(Homo sapiens)
PALB2 L1172P [nucleoplasm]
(Homo sapiens)
PALB2 L972Q [nucleoplasm]
(Homo sapiens)
PALB2 E230* [nucleoplasm]
(Homo sapiens)
PALB2 Q251* [nucleoplasm]
(Homo sapiens)
PALB2 S172Gfs*4 [nucleoplasm]
(Homo sapiens)
PALB2 E669Gfs*3 [nucleoplasm]
(Homo sapiens)
PALB2 D715Efs*2 [nucleoplasm]
(Homo sapiens)
PALB2 C882Wfs*3 [nucleoplasm]
(Homo sapiens)
PALB2 Y1108Sfs*16 [nucleoplasm]
(Homo sapiens)
PALB2 G1121Vfs*3 [nucleoplasm]
(Homo sapiens)
PALB2 G1166Vfs*25 [nucleoplasm]
(Homo sapiens)
Participates
as an input of
Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of PALB2 in binding to BRCA2/RAD51/RAD51C (Homo sapiens)
Disease
Name
Identifier
Synonyms
cancer
DOID:162
malignant tumor, malignant neoplasm, primary cancer
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