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BRCA1 mutants (PALB2 binding) [nucleoplasm]
Stable Identifier
R-HSA-9702088
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 BRCA1 loss of function (Homo sapiens)
Defective D-loop formation mediated by PALB2, BRCA2 and RAD51 due to loss-of-function of BRCA1 in PALB2 binding (Homo sapiens)
Defective 3' overhanging ssDNA-DSBs:p-MRN:p-S1981,Ac-K3016-ATM:KAT5:BRCA1-C complex:EXO1,DNA2:BLM,WRN:p-S990,Ac-K1249-BRIP1:p-T309-RAD51:p-T3387-BRCA2:BCDX2 complex [nucleoplasm] (Homo sapiens)
Defective 3' overhanging ssDNA-DSBs:p-MRN:p-S1981,Ac-K3016-ATM:KAT5:BRCA1-C complex:EXO1,DNA2:BLM,WRN:p-S990,Ac-K1249-BRIP1:p-T309-RAD51:p-T3387-BRCA2 [nucleoplasm] (Homo sapiens)
Defective BRCA1-C complex [nucleoplasm] (Homo sapiens)
Defective p-5S-BRCA1:p-2T-BARD1 [nucleoplasm] (Homo sapiens)
BRCA1 mutants (PALB2 binding) [nucleoplasm] (Homo sapiens)
Participants
members
BRCA1 M1400V [nucleoplasm]
(Homo sapiens)
BRCA1 L1407P [nucleoplasm]
(Homo sapiens)
BRCA1 M1411T [nucleoplasm]
(Homo sapiens)
candidates
BRCA1 E1004* [nucleoplasm]
(Homo sapiens)
BRCA1 E1033* [nucleoplasm]
(Homo sapiens)
BRCA1 E1107* [nucleoplasm]
(Homo sapiens)
BRCA1 E111* [nucleoplasm]
(Homo sapiens)
BRCA1 E1112* [nucleoplasm]
(Homo sapiens)
BRCA1 E116* [nucleoplasm]
(Homo sapiens)
BRCA1 E1167* [nucleoplasm]
(Homo sapiens)
BRCA1 E1210* [nucleoplasm]
(Homo sapiens)
BRCA1 E1214* [nucleoplasm]
(Homo sapiens)
BRCA1 E1250* [nucleoplasm]
(Homo sapiens)
BRCA1 E1258* [nucleoplasm]
(Homo sapiens)
BRCA1 E149* [nucleoplasm]
(Homo sapiens)
BRCA1 E272* [nucleoplasm]
(Homo sapiens)
BRCA1 E457* [nucleoplasm]
(Homo sapiens)
BRCA1 E515* [nucleoplasm]
(Homo sapiens)
BRCA1 E572* [nucleoplasm]
(Homo sapiens)
BRCA1 E577* [nucleoplasm]
(Homo sapiens)
BRCA1 E597* [nucleoplasm]
(Homo sapiens)
BRCA1 E648* [nucleoplasm]
(Homo sapiens)
BRCA1 E673* [nucleoplasm]
(Homo sapiens)
BRCA1 E720* [nucleoplasm]
(Homo sapiens)
BRCA1 E733* [nucleoplasm]
(Homo sapiens)
BRCA1 E787* [nucleoplasm]
(Homo sapiens)
BRCA1 E836* [nucleoplasm]
(Homo sapiens)
BRCA1 E842* [nucleoplasm]
(Homo sapiens)
BRCA1 E848* [nucleoplasm]
(Homo sapiens)
BRCA1 E881* [nucleoplasm]
(Homo sapiens)
BRCA1 E904* [nucleoplasm]
(Homo sapiens)
BRCA1 G535* [nucleoplasm]
(Homo sapiens)
BRCA1 G911* [nucleoplasm]
(Homo sapiens)
BRCA1 K1037* [nucleoplasm]
(Homo sapiens)
BRCA1 K1160* [nucleoplasm]
(Homo sapiens)
BRCA1 K467* [nucleoplasm]
(Homo sapiens)
BRCA1 K519* [nucleoplasm]
(Homo sapiens)
BRCA1 K800* [nucleoplasm]
(Homo sapiens)
BRCA1 K935* [nucleoplasm]
(Homo sapiens)
BRCA1 L1276* [nucleoplasm]
(Homo sapiens)
BRCA1 L431* [nucleoplasm]
(Homo sapiens)
BRCA1 L474* [nucleoplasm]
(Homo sapiens)
BRCA1 Q1144* [nucleoplasm]
(Homo sapiens)
BRCA1 Q1240* [nucleoplasm]
(Homo sapiens)
BRCA1 Q126* [nucleoplasm]
(Homo sapiens)
BRCA1 Q1281* [nucleoplasm]
(Homo sapiens)
BRCA1 Q169* [nucleoplasm]
(Homo sapiens)
BRCA1 Q202* [nucleoplasm]
(Homo sapiens)
BRCA1 Q210* [nucleoplasm]
(Homo sapiens)
BRCA1 Q317* [nucleoplasm]
(Homo sapiens)
BRCA1 Q541* [nucleoplasm]
(Homo sapiens)
BRCA1 Q544* [nucleoplasm]
(Homo sapiens)
BRCA1 Q667* [nucleoplasm]
(Homo sapiens)
BRCA1 Q934* [nucleoplasm]
(Homo sapiens)
BRCA1 Q94* [nucleoplasm]
(Homo sapiens)
BRCA1 R1203* [nucleoplasm]
(Homo sapiens)
BRCA1 R388* [nucleoplasm]
(Homo sapiens)
BRCA1 S1007* [nucleoplasm]
(Homo sapiens)
BRCA1 S1009* [nucleoplasm]
(Homo sapiens)
BRCA1 S451* [nucleoplasm]
(Homo sapiens)
BRCA1 S864* [nucleoplasm]
(Homo sapiens)
BRCA1 S988* [nucleoplasm]
(Homo sapiens)
BRCA1 W372* [nucleoplasm]
(Homo sapiens)
BRCA1 Y655* [nucleoplasm]
(Homo sapiens)
BRCA1 Y777* [nucleoplasm]
(Homo sapiens)
BRCA1 A224Gfs*4 [nucleoplasm]
(Homo sapiens)
BRCA1 A521Qfs*11 [nucleoplasm]
(Homo sapiens)
BRCA1 A878Gfs*24 [nucleoplasm]
(Homo sapiens)
BRCA1 C1146Lfs*8 [nucleoplasm]
(Homo sapiens)
BRCA1 C1225Sfs*10 [nucleoplasm]
(Homo sapiens)
BRCA1 D1156Cfs*2 [nucleoplasm]
(Homo sapiens)
BRCA1 D295Tfs*3 [nucleoplasm]
(Homo sapiens)
BRCA1 E1013Nfs*4 [nucleoplasm]
(Homo sapiens)
BRCA1 E1112Dfs*5 [nucleoplasm]
(Homo sapiens)
BRCA1 E1115* [nucleoplasm]
(Homo sapiens)
BRCA1 E111Gfs*3 [nucleoplasm]
(Homo sapiens)
BRCA1 E1282Afs*26 [nucleoplasm]
(Homo sapiens)
BRCA1 E1288Kfs*19 [nucleoplasm]
(Homo sapiens)
BRCA1 E453Rfs*22 [nucleoplasm]
(Homo sapiens)
BRCA1 E686* [nucleoplasm]
(Homo sapiens)
BRCA1 E729Rfs*10 [nucleoplasm]
(Homo sapiens)
BRCA1 E75Kfs*13 [nucleoplasm]
(Homo sapiens)
BRCA1 F869Vfs*35 [nucleoplasm]
(Homo sapiens)
BRCA1 F989Lfs*10 [nucleoplasm]
(Homo sapiens)
BRCA1 F989Lfs*11 [nucleoplasm]
(Homo sapiens)
BRCA1 G813Dfs*2 [nucleoplasm]
(Homo sapiens)
BRCA1 G817Vfs*29 [nucleoplasm]
(Homo sapiens)
BRCA1 G911Efs*89 [nucleoplasm]
(Homo sapiens)
BRCA1 G928Afs*72 [nucleoplasm]
(Homo sapiens)
BRCA1 G948Efs*52 [nucleoplasm]
(Homo sapiens)
BRCA1 H1284Tfs*23 [nucleoplasm]
(Homo sapiens)
BRCA1 H437* [nucleoplasm]
(Homo sapiens)
BRCA1 H816Qfs*3 [nucleoplasm]
(Homo sapiens)
BRCA1 I925Nfs*13 [nucleoplasm]
(Homo sapiens)
BRCA1 I986Sfs*14 [nucleoplasm]
(Homo sapiens)
BRCA1 K1079Nfs*2 [nucleoplasm]
(Homo sapiens)
BRCA1 K1183Rfs*4 [nucleoplasm]
(Homo sapiens)
BRCA1 K1254Nfs*11 [nucleoplasm]
(Homo sapiens)
BRCA1 K339Rfs*2 [nucleoplasm]
(Homo sapiens)
BRCA1 K608Ifs*3 [nucleoplasm]
(Homo sapiens)
BRCA1 K654Sfs*47 [nucleoplasm]
(Homo sapiens)
BRCA1 K739Ifs*15 [nucleoplasm]
(Homo sapiens)
BRCA1 K893Rfs*107 [nucleoplasm]
(Homo sapiens)
BRCA1 K894Tfs*8 [nucleoplasm]
(Homo sapiens)
BRCA1 L1086Dfs*2 [nucleoplasm]
(Homo sapiens)
BRCA1 L290Yfs*8 [nucleoplasm]
(Homo sapiens)
BRCA1 L502Afs*2 [nucleoplasm]
(Homo sapiens)
BRCA1 L668Pfs*33 [nucleoplasm]
(Homo sapiens)
BRCA1 N1029Kfs*3 [nucleoplasm]
(Homo sapiens)
BRCA1 N1045* [nucleoplasm]
(Homo sapiens)
BRCA1 N1121Kfs*12 [nucleoplasm]
(Homo sapiens)
BRCA1 N1265Kfs*4 [nucleoplasm]
(Homo sapiens)
BRCA1 N287Qfs*6 [nucleoplasm]
(Homo sapiens)
BRCA1 N714Kfs*4 [nucleoplasm]
(Homo sapiens)
BRCA1 P115* [nucleoplasm]
(Homo sapiens)
BRCA1 Q172Nfs*62 [nucleoplasm]
(Homo sapiens)
BRCA1 R1188Efs*3 [nucleoplasm]
(Homo sapiens)
BRCA1 R446Sfs*9 [nucleoplasm]
(Homo sapiens)
BRCA1 N555Ifs*17 [nucleoplasm]
(Homo sapiens)
BRCA1 N555Kfs*17 [nucleoplasm]
(Homo sapiens)
BRCA1 N567Pfs*16 [nucleoplasm]
(Homo sapiens)
BRCA1 N909Kfs*6 [nucleoplasm]
(Homo sapiens)
BRCA1 P724Lfs*12 [nucleoplasm]
(Homo sapiens)
BRCA1 P897Kfs*5 [nucleoplasm]
(Homo sapiens)
BRCA1 Q210Sfs*6 [nucleoplasm]
(Homo sapiens)
BRCA1 R71Kfs*10 [nucleoplasm]
(Homo sapiens)
BRCA1 S1217Rfs*21 [nucleoplasm]
(Homo sapiens)
BRCA1 S242Rfs*5 [nucleoplasm]
(Homo sapiens)
BRCA1 T922Lfs*77 [nucleoplasm]
(Homo sapiens)
BRCA1 V1176Ffs*34 [nucleoplasm]
(Homo sapiens)
BRCA1 Y1127Sfs*6 [nucleoplasm]
(Homo sapiens)
BRCA1 S426* [nucleoplasm]
(Homo sapiens)
BRCA1 S886Cfs*16 [nucleoplasm]
(Homo sapiens)
BRCA1 T464Pfs*11 [nucleoplasm]
(Homo sapiens)
BRCA1 V340Gfs*6 [nucleoplasm]
(Homo sapiens)
BRCA1 V757Ffs*8 [nucleoplasm]
(Homo sapiens)
BRCA1 V83Cfs*2 [nucleoplasm]
(Homo sapiens)
BRCA1 W372Yfs*5 [nucleoplasm]
(Homo sapiens)
BRCA1 Y655Vfs*18 [nucleoplasm]
(Homo sapiens)
Participates
as a component of
Defective p-5S-BRCA1:p-2T-BARD1 [nucleoplasm] (Homo sapiens)
Disease
Name
Identifier
Synonyms
cancer
DOID:162
malignant tumor, malignant neoplasm, primary cancer
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