##gff-version 3 Q9UIF7 UniProtKB Chain 1 546 . . . ID=PRO_0000102239;Note=Adenine DNA glycosylase Q9UIF7 UniProtKB Domain 364 495 . . . Note=Nudix hydrolase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00794 Q9UIF7 UniProtKB Region 19 51 . . . Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256|SAM:MobiDB-lite Q9UIF7 UniProtKB Motif 404 426 . . . Note=Nudix box Q9UIF7 UniProtKB Active site 131 131 . . . Note=Proton donor/acceptor;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P83847 Q9UIF7 UniProtKB Binding site 287 287 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 Q9UIF7 UniProtKB Binding site 294 294 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 Q9UIF7 UniProtKB Binding site 297 297 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 Q9UIF7 UniProtKB Binding site 303 303 . . . Ontology_term=ECO:0000250;evidence=ECO:0000250 Q9UIF7 UniProtKB Site 233 233 . . . Note=Transition state stabilizer;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P83847 Q9UIF7 UniProtKB Alternative sequence 1 14 . . . ID=VSP_010548;Note=In isoform Beta-1%2C isoform Gamma-2 and isoform Gamma-3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10684930;Dbxref=PMID:10684930 Q9UIF7 UniProtKB Alternative sequence 53 63 . . . ID=VSP_010550;Note=In isoform Alpha-3 and isoform Gamma-3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10684930,ECO:0000303|PubMed:15489334;Dbxref=PMID:10684930,PMID:15489334 Q9UIF7 UniProtKB Alternative sequence 53 62 . . . ID=VSP_010549;Note=In isoform Alpha-2 and isoform Gamma-2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10684930;Dbxref=PMID:10684930 Q9UIF7 UniProtKB Natural variant 18 18 . . . ID=VAR_077640;Note=In FAP2%3B uncertain significance%3B decreased function in DNA repair. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs79777494,PMID:25820570 Q9UIF7 UniProtKB Natural variant 22 22 . . . ID=VAR_018872;Note=Does not affect function in DNA repair. V->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12606733,ECO:0000269|PubMed:16134147,ECO:0000269|PubMed:16287072,ECO:0000269|PubMed:16941501,ECO:0000269|PubMed:25820570,ECO:0000269|Ref.4;Dbxref=dbSNP:rs3219484,PMID:12606733,PMID:16134147,PMID:16287072,PMID:16941501,PMID:25820570 Q9UIF7 UniProtKB Natural variant 25 25 . . . ID=VAR_077641;Note=Does not affect function in DNA repair. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs75321043,PMID:25820570 Q9UIF7 UniProtKB Natural variant 72 72 . . . ID=VAR_077642;Note=Does not affect DNA glycosylase activity. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20848659;Dbxref=dbSNP:rs1557487179,PMID:20848659 Q9UIF7 UniProtKB Natural variant 100 100 . . . ID=VAR_077643;Note=Found in sporadic hepatocellular carcinoma%3B uncertain significance%3B loss of function in DNA repair. W->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs1140507,PMID:25820570 Q9UIF7 UniProtKB Natural variant 102 102 . . . ID=VAR_077644;Note=Found in multiple polyposis and sporadic colorectal cancer cases%3B uncertain significance%3B does not affect DNA glycosylase activity%3B does not affect function in DNA repair. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25820570,ECO:0000269|PubMed:26694661;Dbxref=dbSNP:rs587780746,PMID:25820570,PMID:26694661 Q9UIF7 UniProtKB Natural variant 125 125 . . . ID=VAR_026045;Note=In FAP2%3B decreased function in DNA repair. Y->H;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15366000,ECO:0000269|PubMed:25820570;Dbxref=PMID:15366000,PMID:25820570 Q9UIF7 UniProtKB Natural variant 128 128 . . . ID=VAR_026046;Note=In FAP2%3B loss of function in DNA repair. W->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12853198,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs730881832,PMID:12853198,PMID:25820570 Q9UIF7 UniProtKB Natural variant 148 148 . . . ID=VAR_064938;Note=In FAP2%3B reduced DNA glycosylase activity%3B decreased DNA binding%3B loss of function in DNA repair. G->GIW;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16287072,ECO:0000269|PubMed:19953527,ECO:0000269|PubMed:20418187;Dbxref=PMID:16287072,PMID:19953527,PMID:20418187 Q9UIF7 UniProtKB Natural variant 154 154 . . . ID=VAR_077646;Note=In FAP2%3B decreased function in DNA repair. P->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16557584,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs777184451,PMID:16557584,PMID:25820570 Q9UIF7 UniProtKB Natural variant 176 176 . . . ID=VAR_018873;Note=In FAP2%3B loss of DNA glycosylase activity%3B decreased DNA binding%3B loss of function in DNA repair. Y->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11818965,ECO:0000269|PubMed:12606733,ECO:0000269|PubMed:12853198,ECO:0000269|PubMed:16134147,ECO:0000269|PubMed:16287072,ECO:0000269|PubMed:16557584,ECO:0000269|PubMed:16941501,ECO:0000269|PubMed:18091433,ECO:0000269|PubMed:19953527,ECO:0000269|PubMed:20418187,ECO:0000269|PubMed:20848659,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs34612342,PMID:11818965,PMID:12606733,PMID:12853198,PMID:16134147,PMID:16287072,PMID:16557584,PMID:16941501,PMID:18091433,PMID:19953527,PMID:20418187,PMID:20848659,PMID:25820570 Q9UIF7 UniProtKB Natural variant 177 177 . . . ID=VAR_077647;Note=In FAP2. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16941501;Dbxref=PMID:16941501 Q9UIF7 UniProtKB Natural variant 179 179 . . . ID=VAR_064939;Note=In FAP2%3B also found in multiple polyposis and colorectal cancer cases%3B loss of function in DNA repair. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18091433,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs747993448,PMID:18091433,PMID:25820570 Q9UIF7 UniProtKB Natural variant 179 179 . . . ID=VAR_026047;Note=In FAP2%3B loss of DNA glycosylase activity%3B loss of function in DNA repair. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15366000,ECO:0000269|PubMed:16557584,ECO:0000269|PubMed:20848659,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs143353451,PMID:15366000,PMID:16557584,PMID:20848659,PMID:25820570 Q9UIF7 UniProtKB Natural variant 182 182 . . . ID=VAR_077648;Note=In FAP2%3B loss of function in DNA repair. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16287072,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs533899702,PMID:16287072,PMID:25820570 Q9UIF7 UniProtKB Natural variant 182 182 . . . ID=VAR_064940;Note=In FAP2%3B loss of DNA glycosylase activity%3B loss of DNA binding%3B loss of function in DNA repair. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18091433,ECO:0000269|PubMed:19953527,ECO:0000269|PubMed:20418187;Dbxref=dbSNP:rs750592289,PMID:18091433,PMID:19953527,PMID:20418187 Q9UIF7 UniProtKB Natural variant 186 186 . . . ID=VAR_077649;Note=In FAP2%3B decreased function in DNA repair. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs754155145,PMID:25820570 Q9UIF7 UniProtKB Natural variant 213 213 . . . ID=VAR_077650;Note=In FAP2. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18515411;Dbxref=dbSNP:rs768553551,PMID:18515411 Q9UIF7 UniProtKB Natural variant 220 220 . . . ID=VAR_077651;Note=In FAP2%3B uncertain significance%3B reduced DNA glycosylase activity%3B no effect on function in DNA repair. I->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16287072,ECO:0000269|PubMed:20848659,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs200872702,PMID:16287072,PMID:20848659,PMID:25820570 Q9UIF7 UniProtKB Natural variant 224 224 . . . ID=VAR_077652;Note=Decreased function in DNA repair. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs11545695,PMID:25820570 Q9UIF7 UniProtKB Natural variant 231 231 . . . ID=VAR_077653;Note=Found in familial colorectal cancer%3B likely pathogenic%3B no significant effect on DNA glycosylase activity%3B slightly decreased function in DNA repair. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25820570,ECO:0000269|PubMed:26694661;Dbxref=dbSNP:rs200165598,PMID:25820570,PMID:26694661 Q9UIF7 UniProtKB Natural variant 235 235 . . . ID=VAR_077654;Note=In FAP2%3B loss of DNA glycosylase activity%3B loss of function in DNA repair. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18515411,ECO:0000269|PubMed:26694661;Dbxref=dbSNP:rs1057517765,PMID:18515411,PMID:26694661 Q9UIF7 UniProtKB Natural variant 238 238 . . . ID=VAR_026048;Note=In FAP2%3B uncertain significance%3B decreased function in DNA repair. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15366000,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs34126013,PMID:15366000,PMID:25820570 Q9UIF7 UniProtKB Natural variant 242 242 . . . ID=VAR_077655;Note=Found in colorectal polyposis%3B likely pathogenic%3B decreased function in DNA repair. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs200495564,PMID:25820570 Q9UIF7 UniProtKB Natural variant 242 242 . . . ID=VAR_077656;Note=In FAP2%3B loss of function in DNA repair. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16134147,ECO:0000269|PubMed:16287072,ECO:0000269|PubMed:16557584,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs140342925,PMID:16134147,PMID:16287072,PMID:16557584,PMID:25820570 Q9UIF7 UniProtKB Natural variant 243 243 . . . ID=VAR_077657;Note=Does not affect function. V->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs587780749,PMID:25820570 Q9UIF7 UniProtKB Natural variant 244 244 . . . ID=VAR_077658;Note=Reduced DNA glycosylase activity%3B decreased function in DNA repair. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26694661;Dbxref=dbSNP:rs587782885,PMID:26694661 Q9UIF7 UniProtKB Natural variant 271 271 . . . ID=VAR_077659;Note=In FAP2%3B loss of function in DNA repair. R->W;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16134147,ECO:0000269|PubMed:16557584,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs769237459,PMID:16134147,PMID:16557584,PMID:25820570 Q9UIF7 UniProtKB Natural variant 280 280 . . . ID=VAR_077660;Note=In FAP2%3B reduced DNA glycosylase activity. M->V;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16941501,ECO:0000269|PubMed:20848659;Dbxref=dbSNP:rs876659676,PMID:16941501,PMID:20848659 Q9UIF7 UniProtKB Natural variant 283 283 . . . ID=VAR_077661;Note=In FAP2%3B uncertain significance%3B does not affect function in DNA repair. G->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs730881833,PMID:25820570 Q9UIF7 UniProtKB Natural variant 287 287 . . . ID=VAR_077662;Note=Found in a case of sporadic lung cancer%3B uncertain significance%3B loss of function in DNA repair. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=PMID:25820570 Q9UIF7 UniProtKB Natural variant 292 292 . . . ID=VAR_077663;Note=In FAP2%3B also found in multiple polyposis cases%3B loss of function in DNA repair. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16557584,ECO:0000269|PubMed:16941501,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs374950566,PMID:16557584,PMID:16941501,PMID:25820570 Q9UIF7 UniProtKB Natural variant 306 306 . . . ID=VAR_077664;Note=In FAP2%3B uncertain significance%3B does not affect DNA glycosylase activity%3B slightly decreased function in DNA repair. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16557584,ECO:0000269|PubMed:20848659,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs138089183,PMID:16557584,PMID:20848659,PMID:25820570 Q9UIF7 UniProtKB Natural variant 319 319 . . . ID=VAR_077665;Note=Does not affect DNA glycosylase activity%3B does not affect function in DNA repair. S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26694661;Dbxref=dbSNP:rs587781810,PMID:26694661 Q9UIF7 UniProtKB Natural variant 335 335 . . . ID=VAR_018874;Note=Does not affect function in DNA repair. Q->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12606733,ECO:0000269|PubMed:16134147,ECO:0000269|PubMed:16287072,ECO:0000269|PubMed:16941501,ECO:0000269|PubMed:25820570,ECO:0000269|Ref.4;Dbxref=dbSNP:rs3219489,PMID:12606733,PMID:16134147,PMID:16287072,PMID:16941501,PMID:25820570 Q9UIF7 UniProtKB Natural variant 335 335 . . . ID=VAR_077666;Note=Found in a family with non-polyposis colorectal cancer-like syndrome%3B uncertain significance%3B does not affect function in DNA repair. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs199742231,PMID:25820570 Q9UIF7 UniProtKB Natural variant 370 370 . . . ID=VAR_048262;Note=Does not affect DNA glycosylase activity. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20848659;Dbxref=dbSNP:rs35352891,PMID:20848659 Q9UIF7 UniProtKB Natural variant 377 377 . . . ID=VAR_077667;Note=In FAP2%3B decreased function in DNA repair. P->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=PMID:25820570 Q9UIF7 UniProtKB Natural variant 385 385 . . . ID=VAR_077668;Note=In FAP2%3B also found in multiple polyposis cases%3B loss of DNA glycosylase activity%3B loss of function in DNA repair. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16134147,ECO:0000269|PubMed:16941501,ECO:0000269|PubMed:20848659,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs1060501335,PMID:16134147,PMID:16941501,PMID:20848659,PMID:25820570 Q9UIF7 UniProtKB Natural variant 393 393 . . . ID=VAR_018875;Note=In FAP2%3B reduced DNA glycosylase activity%3B decreased DNA binding%3B decreased function in DNA repair. G->D;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11818965,ECO:0000269|PubMed:12606733,ECO:0000269|PubMed:12853198,ECO:0000269|PubMed:16134147,ECO:0000269|PubMed:16287072,ECO:0000269|PubMed:16557584,ECO:0000269|PubMed:16941501,ECO:0000269|PubMed:18091433,ECO:0000269|PubMed:19953527,ECO:0000269|PubMed:20418187,ECO:0000269|PubMed:20848659,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs36053993,PMID:11818965,PMID:12606733,PMID:12853198,PMID:16134147,PMID:16287072,PMID:16557584,PMID:16941501,PMID:18091433,PMID:19953527,PMID:20418187,PMID:20848659,PMID:25820570 Q9UIF7 UniProtKB Natural variant 402 402 . . . ID=VAR_077669;Note=In FAP2%3B also found in multiple polyposis and colorectal cancer cases%3B loss of DNA glycosylase activity%3B loss of function in DNA repair. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16557584,ECO:0000269|PubMed:20848659,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs529008617,PMID:16557584,PMID:20848659,PMID:25820570 Q9UIF7 UniProtKB Natural variant 402 402 . . . ID=VAR_026049;Note=In GASC%3B sporadic%3B decreased function in DNA repair. P->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15273732,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs121908382,PMID:15273732,PMID:25820570 Q9UIF7 UniProtKB Natural variant 411 411 . . . ID=VAR_026050;Note=In GASC%3B uncertain significance%3B does not affect function in DNA repair. Q->R;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15273732,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs121908383,PMID:15273732,PMID:25820570 Q9UIF7 UniProtKB Natural variant 417 417 . . . ID=VAR_077670;Note=In FAP2%3B uncertain significance%3B also found in a family with non-polyposis colorectal cancer-like syndrome%3B uncertain significance%3B does not affect function in DNA repair. L->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs144079536,PMID:25820570 Q9UIF7 UniProtKB Natural variant 423 423 . . . ID=VAR_077671;Note=In FAP2%3B uncertain significance%3B does not affect function in DNA repair. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16134147,ECO:0000269|PubMed:16557584,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs150792276,PMID:16134147,PMID:16557584,PMID:25820570 Q9UIF7 UniProtKB Natural variant 434 434 . . . ID=VAR_077672;Note=Found in sporadic colorectal cancer cases%3B uncertain significance%3B decreased function in DNA repair. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=PMID:25820570 Q9UIF7 UniProtKB Natural variant 434 434 . . . ID=VAR_077673;Note=Does not affect function in DNA repair. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs587782120,PMID:25820570 Q9UIF7 UniProtKB Natural variant 470 470 . . . ID=VAR_077674;Note=In FAP2%3B loss of function in DNA repair. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs200844166,PMID:25820570 Q9UIF7 UniProtKB Natural variant 470 470 . . . ID=VAR_077675;Note=Found in patient with multiple polyposis%3B uncertain significance%3B does not affect function in DNA repair. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs192816572,PMID:25820570 Q9UIF7 UniProtKB Natural variant 474 474 . . . ID=VAR_077676;Note=In FAP2%3B uncertain significance. T->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18515411;Dbxref=dbSNP:rs767747402,PMID:18515411 Q9UIF7 UniProtKB Natural variant 477 477 . . . ID=VAR_064941;Note=In FAP2%3B also found in a case of sporadic colorectal cancer%3B loss of DNA glycosylase activity%3B loss of DNA binding%3B loss of function in DNA repair. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16134147,ECO:0000269|PubMed:16557584,ECO:0000269|PubMed:19953527,ECO:0000269|PubMed:20418187,ECO:0000269|PubMed:20848659,ECO:0000269|PubMed:25820570;Dbxref=PMID:16134147,PMID:16557584,PMID:19953527,PMID:20418187,PMID:20848659,PMID:25820570 Q9UIF7 UniProtKB Natural variant 486 486 . . . ID=VAR_077677;Note=In FAP2%3B decreased function in DNA repair. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs587782263,PMID:25820570 Q9UIF7 UniProtKB Natural variant 490 490 . . . ID=VAR_077678;Note=In FAP2%3B uncertain significance%3B decreased function in DNA repair. V->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16557584,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs587782228,PMID:16557584,PMID:25820570 Q9UIF7 UniProtKB Natural variant 500 500 . . . ID=VAR_018876;Note=Decreased function in DNA repair. G->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25820570,ECO:0000269|Ref.4;Dbxref=dbSNP:rs3219494,PMID:25820570 Q9UIF7 UniProtKB Natural variant 512 512 . . . ID=VAR_026051;Note=Does not affect DNA glycosylase activity%3B does not affect function in DNA repair. S->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12606733,ECO:0000269|PubMed:16941501,ECO:0000269|PubMed:20848659,ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs140118273,PMID:12606733,PMID:16941501,PMID:20848659,PMID:25820570 Q9UIF7 UniProtKB Natural variant 513 513 . . . ID=VAR_077679;Note=Does not affect function in DNA repair. P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25820570;Dbxref=dbSNP:rs587778542,PMID:25820570 Q9UIF7 UniProtKB Natural variant 520 520 . . . ID=VAR_077680;Note=Does not affect DNA glycosylase activity%3B does not affect function in DNA repair. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26694661;Dbxref=dbSNP:rs374655042,PMID:26694661 Q9UIF7 UniProtKB Natural variant 526 526 . . . ID=VAR_018877;Note=Does not affect function in DNA repair. L->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25820570,ECO:0000269|Ref.4;Dbxref=dbSNP:rs3219496,PMID:25820570 Q9UIF7 UniProtKB Natural variant 531 531 . . . ID=VAR_018878;Note=Does not affect function in DNA repair. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:25820570,ECO:0000269|Ref.4;Dbxref=dbSNP:rs3219497,PMID:25820570 Q9UIF7 UniProtKB Natural variant 536 536 . . . ID=VAR_077681;Note=Does not affect DNA glycosylase activity%3B does not affect function in DNA repair. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26694661;Dbxref=dbSNP:rs151196169,PMID:26694661 Q9UIF7 UniProtKB Mutagenesis 121 121 . . . Note=Does not affect DNA glycosylase activity. Does not affect function in DNA repair. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26694661;Dbxref=PMID:26694661 Q9UIF7 UniProtKB Mutagenesis 233 233 . . . Note=Loss of DNA glycosylase activity. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20848659;Dbxref=PMID:20848659 Q9UIF7 UniProtKB Helix 87 104 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 109 116 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 120 135 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 139 152 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 156 160 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 164 171 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 177 193 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 202 208 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 214 224 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 234 243 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 253 266 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 272 285 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Beta strand 289 291 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 300 302 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 304 316 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Helix 330 332 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:3N5N Q9UIF7 UniProtKB Beta strand 358 360 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1X51 Q9UIF7 UniProtKB Beta strand 366 377 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1X51 Q9UIF7 UniProtKB Beta strand 379 388 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1X51 Q9UIF7 UniProtKB Beta strand 403 405 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1X51 Q9UIF7 UniProtKB Helix 410 424 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1X51 Q9UIF7 UniProtKB Beta strand 447 456 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1X51 Q9UIF7 UniProtKB Beta strand 470 474 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1X51 Q9UIF7 UniProtKB Helix 475 480 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1X51 Q9UIF7 UniProtKB Helix 485 495 . . . Ontology_term=ECO:0007829;evidence=ECO:0007829|PDB:1X51