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| Gene Symbol | APC | ||||||||||
| Synonyms | BTPS2 | DESMD | DP2 | DP2.5 | DP3 | GS | PPP1R46 | ||||||||||
| Gene Description | APC, adenomatous polyposis coli, is a tumor suppressor (PMID: 30562755) and multi-domain protein regulating numerous cellular functions through interaction with beta-catenin and subsequent inhibition of Wnt signalling (PMID: 10959075). APC germline mutations are associated with familial adenomatous polyposis (PMID: 30562755) and somatic mutations with colon, endometrial, NSCLC, and breast cancers (PMID: 27283171). | ||||||||||
| ACMG Incidental List v3.0: |
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| Variant | Impact | Protein Effect | Variant Description | Associated with drug Resistance |
|---|---|---|---|---|
| A1225G | missense | unknown | APC A1225G does not lie within any known functional domains of the Apc protein (UniProt.org). A1225G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| A1296fs | frameshift | loss of function - predicted | APC A1296fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1296 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1296fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1296 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A1296V | missense | unknown | APC A1296V lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). A1296V has been identified in sequencing studies (PMID: 10666372), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| A1305fs | frameshift | loss of function - predicted | APC A1305fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1305 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1305fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1305 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A1305G | missense | unknown | APC A1305G lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). A1305G has been identified in sequencing studies (PMID: 18369740), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| A1316fs | frameshift | loss of function - predicted | APC A1316fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1316 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1316fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1316 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A1325fs | frameshift | loss of function - predicted | APC A1325fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1325 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1325fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1325 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A1347T | missense | unknown | APC A1347T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1347T has been identified in sequencing studies (PMID: 22622578, PMID: 25343854), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| A1351fs | frameshift | loss of function - predicted | APC A1351fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1351 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1351fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1351 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A1358E | missense | unknown | APC A1358E lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1358E has been identified in sequencing studies (PMID: 10440612), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| A1366V | missense | unknown | APC A1366V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1366V has been identified in the scientific literature (PMID: 21901162), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| A1402fs | frameshift | loss of function - predicted | APC A1402fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1402 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1402fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1402 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A1446fs | frameshift | loss of function - predicted | APC A1446fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1446 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1446fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1446 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A1446_Q1447insDIA | insertion | unknown | APC A1446_Q1447insDIA results in the insertion of three amino acids in the Apc protein between amino acids 1446 and 1447 (UniProt.org). A1446_Q1447insDIA has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| A1470fs | frameshift | loss of function - predicted | APC A1470fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1470 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1470fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1470 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A1470T | missense | unknown | APC A1470T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1470T has been identified in sequencing studies (PMID: 8242071, PMID: 29523763), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| A1471fs | frameshift | loss of function - predicted | APC A1471fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1471 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1471fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1471 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A1475fs | frameshift | loss of function - predicted | APC A1475fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1475 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1475fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1475 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A1475V | missense | unknown | APC A1475V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1475V has been identified in sequencing studies (PMID: 18844223), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| A1485fs | frameshift | loss of function - predicted | APC A1485fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1485 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1485fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1485 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A1492fs | frameshift | loss of function - predicted | APC A1492fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1492 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1492fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1492 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A1508V | missense | unknown | APC A1508V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1508V has been identified in sequencing studies (PMID: 20569184), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| A1553T | missense | unknown | APC A1553T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1553T has been identified in sequencing studies (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| A1914* | nonsense | loss of function - predicted | APC A1914* results in a premature truncation of the Apc protein at amino acid 1914 of 2843 (UniProt.org). A1914* results in reduced suppression of beta-catenin activity in a reporter assay (PMID: 18199528), and therefore, is predicted to lead to a loss of Apc protein function. | |
| A214V | missense | unknown | APC A214V lies within a coiled-coil domain of the Apc protein (UniProt.org). A214V has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| A2690T | missense | unknown | APC A2690T does not lie within any known functional domains of the Apc protein (UniProt.org). A2690T has been identified in sequencing studies (PMID: 24082139), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| A614Tfs*21 | frameshift | loss of function - predicted | APC A614Tfs*21 indicates a shift in the reading frame starting at amino acid 614 and terminating 21 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). A614Tfs*21 has not been characterized, however, due to the effects of other truncation mutations downstream of A614 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A888S | missense | unknown | APC A888S does not lie within any known functional domains of the Apc protein (UniProt.org). A888S has been identified in sequencing studies (PMID: 27034166), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| A928fs | frameshift | loss of function - predicted | APC A928fs results in a change in the amino acid sequence of the Apc protein beginning at aa 928 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A928fs has not been characterized, however, due to the effects of other truncation mutations downstream of A928 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| A952Qfs*10 | frameshift | loss of function - predicted | APC A952Qfs*10 indicates a shift in the reading frame starting at amino acid 952 and terminating 10 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). A952Qfs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of A952 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| C1274fs | frameshift | loss of function - predicted | APC C1274fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1274 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1274fs has not been characterized, however, due to the effects of other truncation mutations downstream of C1274 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| C1289fs | frameshift | loss of function - predicted | APC C1289fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1289 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1289fs has not been characterized, however, due to the effects of other truncation mutations downstream of C1289 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| C1387* | nonsense | loss of function - predicted | APC C1387* results in a premature truncation of the Apc protein at amino acid 1387 of 2843 (UniProt.org). C1387* has not been characterized, however, due to the effects of other truncation mutations downstream of C1387 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| C1387fs | frameshift | loss of function - predicted | APC C1387fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1387 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1387fs has not been characterized, however, due to the effects of other truncation mutations downstream of C1387 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| C1410* | nonsense | loss of function - predicted | APC C1410* results in a premature truncation of the Apc protein at amino acid 1410 of 2843 (UniProt.org). C1410* has not been characterized, however, due to the effects of other truncation mutations downstream of C1410 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| C1410S | missense | unknown | APC C1410S lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). C1410S has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| C1578fs | frameshift | unknown | APC C1578fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1578 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). C1578fs has been identified in sequencing studies (PMID: 20102718), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| C207* | nonsense | loss of function - predicted | APC C207* results in a premature truncation of the Apc protein at amino acid 207 of 2843 (UniProt.org). C207* has not been characterized, however, due to the effects of other truncation mutations downstream of C207 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| D1003N | missense | unknown | APC D1003N lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). D1003N has been identified in sequencing studies (PMID: 25545608, PMID: 23085758), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| D1022G | missense | unknown | APC D1022G lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). D1022G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| D1058G | missense | unknown | APC D1058G lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). D1058G has been identified in the scientific literature (PMID: 28576136), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| D1083E | missense | unknown | APC D1083E lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). D1083E has been identified in sequencing studies (PMID: 28576136), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| D1297A | missense | unknown | APC D1297A lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). D1297A has been identified in sequencing studies (PMID: 17257127), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| D1297fs | frameshift | loss of function - predicted | APC D1297fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1297 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1297fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1297 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| D1318fs | frameshift | loss of function - predicted | APC D1318fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1318 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1318fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1318 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| D1394fs | frameshift | loss of function - predicted | APC D1394fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1394 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1394fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1394 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| D1422fs | frameshift | loss of function - predicted | APC D1422fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1422 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1422fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1422 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| D1422H | missense | unknown | APC D1422H lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1422H has been identified in sequencing studies (PMID: 8221638), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| D1422N | missense | unknown | APC D1422N lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1422N has been identified in sequencing studies (PMID: 18632876), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| D1425A | missense | unknown | APC D1425A lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1425A has been identified in sequencing studies (PMID: 8055154), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| D1425fs | frameshift | loss of function - predicted | APC D1425fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1425 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1425fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1425 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| D1484fs | frameshift | loss of function - predicted | APC D1484fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1484 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1484fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1484 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| D1486fs | frameshift | loss of function - predicted | APC D1486fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1486 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1486fs has not been characterized, however, due to the effects of other truncation mutations downstream of D1486 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| D1566N | missense | unknown | APC D1566N lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). D1566N has been identified in sequencing studies (PMID: 22864938), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| D1636fs | frameshift | unknown | APC D1636fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1636 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D1636fs has been identified in sequencing studies (PMID: 36013219), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| D1636Gfs*2 | frameshift | unknown | APC D1636Gfs*2 indicates a shift in the reading frame starting at amino acid 1636 and terminating two residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). D1636Gfs*2 has been identified in sequencing studies (PMID: 36013219), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| D2490N | missense | unknown | APC D2490N does not lie within any known functional domains of the Apc protein (UniProt.org). D2490N has been identified in sequencing studies (PMID: 32913981), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| D962fs | frameshift | loss of function - predicted | APC D962fs results in a change in the amino acid sequence of the Apc protein beginning at aa 962 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). D962fs has not been characterized, however, due to the effects of other truncation mutations downstream of D962 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| dec exp | none | no effect | APC dec exp indicates decreased expression of the Apc protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified. | |
| E109* | nonsense | loss of function - predicted | APC E109* results in a premature truncation of the Apc protein at amino acid 109 of 2843 (UniProt.org). E109* has not been characterized, however, due to the effects of other truncation mutations downstream of E109 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1284K | missense | unknown | APC E1284K lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1284K has been identified in the scientific literature (PMID: 28352668, PMID: 15072829), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| E1284Mfs*3 | frameshift | loss of function - predicted | APC E1284Mfs*3 indicates a shift in the reading frame starting at amino acid 1284 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). E1284Mfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of E1284 (PMID: 18199528, PMID: 10346819), is predicted to result in a loss of Apc protein function. | |
| E1286* | nonsense | loss of function - predicted | APC E1286* results in a premature truncation of the Apc protein at amino acid 1286 of 2843 (UniProt.org). E1286* has not been characterized, however, due to the effects of other truncation mutations downstream of E1286 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1286G | missense | unknown | APC E1286G lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1286G has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| E1295* | nonsense | loss of function - predicted | APC E1295* results in a premature truncation of the Apc protein at amino acid 1295 of 2843 (UniProt.org). E1295* has not been characterized, however, due to the effects of other truncation mutations downstream of E1295 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1295fs | frameshift | loss of function - predicted | APC E1295fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1295 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1295fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1295 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E129Q | missense | unknown | APC E129Q lies within a coiled-coil domain of the Apc protein (UniProt.org). E129Q has been identified in sequencing studies (PMID: 24728327, PMID: 31703593), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| E1306* | nonsense | loss of function - predicted | APC E1306* results in a premature truncation of the Apc protein at amino acid 1306 of 2843 (UniProt.org). E1306* has not been characterized, however, due to the effects of other truncation mutations downstream of E1306 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1306fs | frameshift | loss of function - predicted | APC E1306fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1306 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1306fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1306 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1306K | missense | unknown | APC E1306K lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1306K has been identified in sequencing studies (PMID: 27311873), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| E1309* | nonsense | loss of function - predicted | APC E1309* results in a premature truncation of the Apc protein at amino acid 1309 of 2843 (UniProt.org). E1309* lacks the ability to suppress beta-catenin activity in culture (PMID: 18199528), and therefore, is predicted to lead to a loss of Apc protein function. | |
| E1309Afs*3 | frameshift | loss of function | APC E1309Afs*3 indicates a shift in the reading frame starting at amino acid 1309 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). E1309Afs*3 confers a loss of function to Apc as demonstrated by a reduced ability to regulate beta-catenin (PMID: 10213492, PMID: 17189293). | |
| E1309Dfs*4 | frameshift | loss of function - predicted | APC E1309Dfs*4 indicates a shift in the reading frame starting at amino acid 1309 and terminating 4 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). E1309Dfs*4 has not been characterized, however, based on the effects of a similar frameshift mutation at E1309 (PMID: 10213492, PMID: 17189293), is predicted to lead to a loss of Apc protein function. | |
| E1309fs | frameshift | loss of function - predicted | APC E1309fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1309 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1309fs has not been characterized, however, based on the effects of a similar frameshift mutation at E1309 (PMID: 10213492, PMID: 17189293), is predicted to lead to a loss of Apc protein function. | |
| E1317* | nonsense | loss of function - predicted | APC E1317* results in a premature truncation of the Apc protein at amino acid 1317 of 2843 (UniProt.org). E1317* has not been characterized, however, due to the effects of other truncation mutations downstream of E1317 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1317Q | missense | unknown | APC E1317Q lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). E1317Q has been identified in the scientific literature (PMID: 14578138, PMID: 32087273), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| E1322* | nonsense | loss of function - predicted | APC E1322* results in a premature truncation of the Apc protein at amino acid 1322 of 2843 (UniProt.org). E1322* has not been characterized, however, due to the effects of other truncation mutations downstream of E1322 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1345* | nonsense | loss of function - predicted | APC E1345* results in a premature truncation of the Apc protein at amino acid 1345 of 2843 (UniProt.org). E1345* has not been characterized, however, due to the effects of other truncation mutations downstream of E1345 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1353* | nonsense | loss of function - predicted | APC E1353* results in a premature truncation of the Apc protein at amino acid 1353 of 2843 (UniProt.org). E1353* has not been characterized, however, due to the effects of other truncation mutations downstream of E1353 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1374* | nonsense | loss of function - predicted | APC E1374* results in a premature truncation of the Apc protein at amino acid 1374 of 2843 (UniProt.org). E1374* has not been characterized, however, due to the effects of other truncation mutations downstream of E1374 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1374K | missense | unknown | APC E1374K lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1374K has been identified in sequencing studies (PMID: 27311873, PMID: 26725423), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| E1379* | nonsense | loss of function - predicted | APC E1379* results in a premature truncation of the Apc protein at amino acid 1379 of 2843 (UniProt.org). E1379* has not been characterized, however, due to the effects of other truncation mutations downstream of E1379 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1397* | nonsense | loss of function - predicted | APC E1397* results in a premature truncation of the Apc protein at amino acid 1397 of 2843 (UniProt.org). E1397* has not been characterized, however, due to the effects of other truncation mutations downstream of E1397 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1408* | nonsense | loss of function - predicted | APC E1408* results in a premature truncation of the Apc protein at amino acid 1408 of 2843 (UniProt.org). E1408* has not been characterized, however, due to the effects of truncation mutations downstream of E1408 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1408V | missense | unknown | APC E1408V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1408V has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| E1451* | nonsense | loss of function - predicted | APC E1451* results in a premature truncation of the Apc protein at amino acid 1451 of 2843 (UniProt.org). E1451* has not been characterized, however, due to the effects of other truncation mutations downstream of E1451 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1461* | nonsense | loss of function - predicted | APC E1461* results in a premature truncation of the Apc protein at amino acid 1461 of 2843 (UniProt.org). E1461* has not been characterized, however, due to the effects of other truncation mutations downstream of E1461 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1464* | nonsense | loss of function - predicted | APC E1464* results in a premature truncation of the Apc protein at amino acid 1464 of 2843 (UniProt.org). E1464* has not been characterized, however, due to the effects of other truncation mutations downstream of E1464 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1464fs | frameshift | loss of function - predicted | APC E1464fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1464 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1464fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1464 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1494* | nonsense | loss of function - predicted | APC E1494* results in a premature truncation of the Apc protein at amino acid 1494 of 2843 (UniProt.org). E1494* has not been characterized, however, due to the effects of other truncation mutations downstream of E1494 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1494fs | frameshift | loss of function - predicted | APC E1494fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1494 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1494fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1494 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1494K | missense | unknown | APC E1494K lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1494K has been identified in sequencing studies (PMID: 29137355), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| E1513* | nonsense | loss of function - predicted | APC E1513* results in a premature truncation of the Apc protein at amino acid 1513 of 2843 (UniProt.org). E1513* has not been characterized, however, due to the effects of other truncation mutations downstream of E1513 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1536fs | frameshift | loss of function - predicted | APC E1536fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1536 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1536fs has not been characterized however, due to the effects of other truncation mutations downstream of 1536 (PMID: 10346819), E1536fs is predicted to lead to a loss of Apc protein function. | |
| E1544* | nonsense | loss of function - predicted | APC E1544* results in a premature truncation of the Apc protein at amino acid 1544 of 2843 (UniProt.org). E1544* has not been characterized, however, due to the effects of other truncation mutations downstream of E1544 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1547* | nonsense | loss of function - predicted | APC E1547* results in a premature truncation of the Apc protein at amino acid 1547 of 2843 (UniProt.org). E1547* has not been characterized, however, due to the effects of other truncation mutations downstream of E1547 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1547K | missense | unknown | APC E1547K lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). E1547K has been identified in sequencing studies (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| E1550fs | frameshift | loss of function - predicted | APC E1550fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1550 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1550fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1550 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1552* | nonsense | loss of function - predicted | APC E1552* results in a premature truncation of the Apc protein at amino acid 1552 of 2843 (UniProt.org). E1552* has not been characterized, however, due to the effects of other truncation mutations downstream of E1552 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1554* | nonsense | loss of function - predicted | APC E1554* results in a premature truncation of the Apc protein at amino acid 1554 of 2843 (UniProt.org). E1554* has not been characterized, however, due to the effects of other truncation mutations downstream of E1554 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1554fs | frameshift | loss of function - predicted | APC E1554fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1554 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E1554fs has not been characterized, however, due to the effects of other truncation mutations downstream of E1554 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E1577* | nonsense | unknown | APC E1577* results in a premature truncation of the Apc protein at amino acid 1577 of 2843 (UniProt.org). E1577* is associated with elevated beta-catenin in a cell line (PMID: 10874025), but has not been fully biochemically characterized and therefore, its effect on Apc protein function is unknown. | |
| E190* | nonsense | loss of function - predicted | APC E190* results in a premature truncation of the Apc protein at amino acid 190 of 2843 (UniProt.org). E190* has not been characterized, however, due to the effects of other truncation mutations downstream of E190 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E484* | nonsense | loss of function - predicted | APC E484* results in a premature truncation of the Apc protein at amino acid 484 of 2843 (UniProt.org). E484* has not been characterized, however, due to the effects of other truncation mutations downstream of E484 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E582fs | frameshift | loss of function - predicted | APC E582fs results in a change in the amino acid sequence of the Apc protein beginning at aa 582 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). E582fs has not been characterized, however, due to the effects of other truncation mutations downstream of E582 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E633* | nonsense | loss of function - predicted | APC E633* results in a premature truncation of the Apc protein at amino acid 633 of 2843 (UniProt.org). E633* has not been characterized, however, due to the effects of other truncation mutations downstream of E633 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E658* | nonsense | loss of function - predicted | APC E658* results in a premature truncation of the Apc protein at amino acid 658 of 2843 (UniProt.org). E658* has not been characterized, however, due to the effects of other truncation mutations downstream of E658 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E763* | nonsense | loss of function - predicted | APC E763* results in a premature truncation of the Apc protein at amino acid 763 of 2843 (UniProt.org). E763* has not been characterized, however, due to the effects of other truncation mutations downstream of E763 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E853* | nonsense | loss of function - predicted | APC E853* results in a premature truncation of the Apc protein at amino acid 853 of 2843 (UniProt.org). E853* has not been characterized, however, due to the effects of other truncation mutations downstream of E853 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E868* | nonsense | loss of function - predicted | APC E868* results in a premature truncation of the Apc protein at amino acid 868 of 2843 (UniProt.org). E868* has not been characterized, however, due to the effects of other truncation mutations downstream of E868 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| E941* | nonsense | loss of function - predicted | APC E941* results in a premature truncation of the Apc protein at amino acid 941 of 2843 (UniProt.org). E941* has not been characterized, however, due to the effects of other truncation mutations downstream of E941 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| F1354fs | frameshift | loss of function - predicted | APC F1354fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1354 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). F1354fs has not been characterized, however, due to the effects of other truncation mutations downstream of F1354 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| F1491fs | frameshift | loss of function - predicted | APC F1491fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1491 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). F1491fs has not been characterized, however, due to the effects of other truncation mutations downstream of F1491 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| G1116Efs*6 | frameshift | loss of function - predicted | APC G1116Efs*6 indicates a shift in the reading frame starting at amino acid 1116 and terminating 6 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). G1116Efs*6 has not been characterized, however, due to the effects of other truncation mutations downstream of G1116 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| G1120E | missense | no effect - predicted | APC G1120E lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). G1120E inhibits beta-catenin mediated transcription at a level similar to wild-type Apc in a yeast assay (PMID: 14633595), and therefore, is predicted to have no effect on Apc protein function. | |
| G1312* | nonsense | loss of function - predicted | APC G1312* results in a premature truncation of the Apc protein at amino acid 1312 of 2843 (UniProt.org). G1312* has not been characterized, however, due to the effects of other truncation mutations downstream of G1312 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| G1312fs | frameshift | loss of function - predicted | APC G1312fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1312 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). G1312fs has not been characterized, however, due to the effects of other truncation mutations downstream of G1312 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| G1312R | missense | unknown | APC G1312R lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). G1312R has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| G1339_S1340dup | duplication | unknown | APC G1339_S1340dup indicates the insertion of two duplicate amino acids, glycine (G)-1339 through serine (S)-1340, in the Apc protein (UniProt.org). G1339_S1340dup has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| G1357fs | frameshift | loss of function - predicted | APC G1357fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1357 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). G1357fs has not been characterized, however, due to the effects of other truncation mutations downstream of G1357 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| G1416* | nonsense | loss of function - predicted | APC G1416* results in a premature truncation of the Apc protein at amino acid 1416 of 2843 (UniProt.org). G1416* has not been characterized, however, due to the effects of other truncation mutations downstream of G1416 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| G1466* | nonsense | loss of function - predicted | APC G1466* results in a premature truncation of the Apc protein at amino acid 1466 of 2843 (UniProt.org). G1466* has not been characterized, however, due to the effects of other truncation mutations downstream of G1466 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| G1499* | nonsense | loss of function - predicted | APC G1499* results in a premature truncation of the Apc protein at amino acid 1499 of 2843 (UniProt.org). G1499* has not been characterized, however, due to the effects of other truncation mutations downstream of G1499 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| G1499R | missense | unknown | APC G1499R lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). G1499R has been identified in sequencing studies (PMID: 22848674), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| G2303R | missense | unknown | APC G2303R does not lie within any known functional domains of the Apc protein (UniProt.org). G2303R has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| G2502S | missense | unknown | APC G2502S does not lie within any known functional domains of the Apc protein (UniProt.org). G2502S has been identified in the scientific literature (PMID: 18612690, PMID: 24790607, PMID: 20233475), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| G471* | nonsense | loss of function - predicted | APC G471* results in a premature truncation of the Apc protein at amino acid 471 of 2843 (UniProt.org). G471* has not been characterized, however, due to the effects of other truncation mutations downstream of G471 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| G471E | missense | unknown | APC G471E lies within ARM repeat 1 of the Apc protein (UniProt.org). G471E has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| G907R | missense | unknown | APC G907R does not lie within any known functional domains of the Apc protein (UniProt.org). G907R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| H1375fs | frameshift | loss of function - predicted | APC H1375fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1375 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). H1375fs has not been characterized, however, due to the effects of other truncation mutations downstream of H1375 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| H1490fs | frameshift | loss of function - predicted | APC H1490fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1490 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). H1490fs has not been characterized, however, due to the effects of other truncation mutations downstream of H1490 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| H2116R | missense | unknown | APC H2116R does not lie within any known functional domains of the Apc protein (UniProt.org). H2116R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| I1164fs | frameshift | loss of function - predicted | APC I1164fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1164 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). I1164fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1164 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| I1287Rfs*3 | frameshift | loss of function - predicted | APC I1287Rfs*3 indicates a shift in the reading frame starting at amino acid 1287 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). I1287Rfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of I1287 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| I1307fs | frameshift | loss of function - predicted | APC I1307fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1307 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). I1307fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1307 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| I1307K | missense | unknown | APC I1307K lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). I1307K has been associated with somatic instability of the APC gene in patient samples (PMID: 9724771, PMID: 24416237), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown. | |
| I1307Kfs*14 | frameshift | loss of function - predicted | APC I1307Kfs*14 indicates a shift in the reading frame starting at amino acid 1307 and terminating 14 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). I1307Kfs*14 has not been characterized, however, due to the effects of other truncation mutations downstream of I1307 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| I1311fs | frameshift | loss of function - predicted | APC I1311fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1311 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). I1311fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1311 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| I1417* | nonsense | loss of function - predicted | APC I1417* results in a premature truncation of the Apc protein at amino acid 1417 of 2843 (UniProt.org). I1417* has not been characterized, however, due to the effects of other truncation mutations downstream of I1417 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| I1557fs | frameshift | loss of function - predicted | APC I1557fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1557 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). I1557fs has not been characterized, however, due to the effects of other truncation mutations downstream of I1557 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| I1574* | nonsense | loss of function - predicted | APC I1574* results in a premature truncation of the Apc protein at amino acid 1574 of 2843 (UniProt.org). I1574* (corresponding to I1572* in mouse) results in a loss of beta-catenin suppression in a reporter assay (PMID: 10346819), and therefore, is predicted to lead to a loss of Apc protein function. | |
| I1913Afs*8 | frameshift | unknown | APC I1913Afs*8 indicates a shift in the reading frame starting at amino acid 1913 and terminating 8 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). I1913Afs*8 has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| I1918V | missense | unknown | APC I1918V lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). I1918V has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| I1926M | missense | unknown | APC I1926M lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). I1926M has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| I606fs | frameshift | loss of function - predicted | APC I606fs results in a change in the amino acid sequence of the Apc protein beginning at aa 606 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). I606fs has not been characterized, however, due to the effects of other truncation mutations downstream of I606 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| I880T | missense | unknown | APC I880T does not lie within any known functional domains of the Apc protein (UniProt.org). I880T has been identified in sequencing studies (PMID: 9419979), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| inact mut | unknown | loss of function | APC inact mut indicates that this variant results in a loss of function of the Apc protein. However, the specific amino acid change has not been identified. | |
| K1308* | nonsense | loss of function - predicted | APC K1308* results in a premature truncation of the Apc protein at amino acid 1308 of 2843 (UniProt.org). K1308* has not been characterized, however, due to the effects of other truncation mutations downstream of K1308 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K1310* | nonsense | loss of function - predicted | APC K1310* results in a premature truncation of the Apc protein at amino acid 1310 of 2843 (UniProt.org). K1310* has not been characterized, however, due to the effects of other truncation mutations downstream of K1310 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K1310D | missense | unknown | APC K1310D lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). K1310D has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| K1310fs | frameshift | loss of function - predicted | APC K1310fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1310 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1310fs has not been characterized, however, due to the effects of other truncation mutations downstream of K1310 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K1350* | nonsense | loss of function - predicted | APC K1350* results in a premature truncation of the Apc protein at amino acid 1350 of 2843 (UniProt.org). K1350* has not been characterized, however, due to the effects of other truncation mutations downstream of K1350 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K1363Rfs*10 | frameshift | loss of function - predicted | APC K1363Rfs*10 indicates a shift in the reading frame starting at amino acid 1363 and terminating 10 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). K1363Rfs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of K1363 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K1370* | nonsense | loss of function - predicted | APC K1370* results in a premature truncation of the Apc protein at amino acid 1370 of 2843 (UniProt.org). K1370* has not been characterized, however, due to the effects of other truncation mutations downstream of K1370 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K1437fs | frameshift | loss of function - predicted | APC K1437fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1437 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1437fs has not been characterized, however, due to the effects of other truncation mutations downstream of K1437 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K1449fs | frameshift | loss of function - predicted | APC K1449fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1449 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1449fs has not been characterized, however, due to the effects of other truncation mutations downstream of K1449 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K1454E | missense | no effect - predicted | APC K1454E lies within the beta-catenin binding and down-regulation region of the Apc protein (PMID: 14672538). K1454E suppresses beta-catenin mediated transcription at a level similar to wild-type Apc in cultured cells (PMID: 18199528), and therefore, is predicted to have no effect on Apc protein function. | |
| K1462fs | frameshift | loss of function - predicted | APC K1462fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1462 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1462fs has not been characterized, however, due to the effects of other truncation mutations downstream of K1462 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K1555* | nonsense | loss of function - predicted | APC K1555* results in a premature truncation of the Apc protein at amino acid 1555 of 2843 (UniProt.org). K1555* has not been characterized, however, due to the effects of other truncation mutations downstream of K1555 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K1555fs | frameshift | loss of function - predicted | APC K1555fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1555 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1555fs has not been characterized, however, due to the effects of other truncation mutations downstream of K1555 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K1817fs | frameshift | unknown | APC K1817fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1817 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). K1817fs has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| K560* | nonsense | loss of function - predicted | APC K560* results in a premature truncation of the Apc protein at amino acid 560 of 2843 (UniProt.org). K560* has not been characterized, however, due to the effects of other truncation mutations downstream of K560 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K670* | nonsense | loss of function - predicted | APC K670* results in a premature truncation of the Apc protein at amino acid 670 of 2843 (UniProt.org). K670* has not been characterized, however, due to the effects of other truncation mutations downstream of K670 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| K716* | nonsense | loss of function - predicted | APC K716* results in a premature truncation of the Apc protein at amino acid 716 of 2843 (UniProt.org). K716* has not been characterized, however, due to the effects of other truncation mutations downstream of K716 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L1129S | missense | unknown | APC L1129S lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). L1129S has been identified in the scientific literature (PMID: 18166348, PMID: 15122587), but has not been characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| L1302fs | frameshift | loss of function - predicted | APC L1302fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1302 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). L1302fs has not been characterized, however, due to the effects of truncation mutations downstream of L1302 (PMID: 10346819, PMID: 18199528), is predicted to lead to a loss of Apc protein function. | |
| L1302Rfs*3 | frameshift | loss of function - predicted | APC L1302Rfs*3 indicates a shift in the reading frame starting at amino acid 1302 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L1302Rfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of L1302 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L1488* | nonsense | loss of function - predicted | APC L1488* results in a premature truncation of the Apc protein at amino acid 1488 of 2843 (UniProt.org). L1488* has not been characterized, however, due to the effects of other truncation mutations downstream of L1488 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L1488Ffs*26 | frameshift | loss of function - predicted | APC L1488Ffs*26 indicates a shift in the reading frame starting at amino acid 1488 and terminating 26 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L1488Ffs*26 has not been characterized, however, due to the effects of other truncation mutations downstream of L1488 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L1488fs | frameshift | loss of function - predicted | APC L1488fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1488 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). L1488fs has not been characterized, however, due to the effects of other truncation mutations downstream of L1488 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L1488Yfs*19 | frameshift | loss of function - predicted | APC L1488Yfs*19 indicates a shift in the reading frame starting at amino acid 1488 and terminating 19 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L1488Yfs*19 has not been characterized, however, due to the effects of other truncation mutations downstream of L1488 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L1489* | nonsense | loss of function - predicted | APC L1489* results in a premature truncation of the Apc protein at amino acid 1489 of 2843 (UniProt.org). L1489* has not been characterized, however, due to the effects of other truncation mutations downstream of L1489 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L1489fs | frameshift | loss of function - predicted | APC L1489fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1489 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). L1489fs has not been characterized, however, due to the effects of other truncation mutations downstream of L1489 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L1489Yfs*18 | frameshift | loss of function - predicted | APC L1489Yfs*18 indicates a shift in the reading frame starting at amino acid 1489 and terminating 18 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L1489Yfs*18 has not been characterized, however, due to the effects of other truncation mutations downstream of L1489 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L1509Efs*4 | frameshift | loss of function - predicted | APC L1509Efs*4 indicates a shift in the reading frame starting at amino acid 1509 and terminating 4 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L1509Efs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of L1509 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L1564* | nonsense | loss of function - predicted | APC L1564* results in a premature truncation of the Apc protein at amino acid 1564 of 2843 (UniProt.org). L1564* has not been characterized, however, due to the effects of other truncation mutations downstream of L1564 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L2253I | missense | unknown | APC L2253I does not lie within any known functional domains of the Apc protein (UniProt.org). L2253I has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| L2401P | missense | unknown | APC L2401P does not lie within any known functional domains of the Apc protein (UniProt.org). L2401P has been identified in sequencing studies (PMID: 28539465), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| L508F | missense | unknown | APC L508F lies within ARM repeat 2 of the Apc protein (UniProt.org). L508F has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| L665* | nonsense | loss of function - predicted | APC L665* results in a premature truncation of the Apc protein at amino acid 665 of 2843 of the Apc protein (UniProt.org). L665* has not been characterized, however, due to the effects of other truncation mutations downstream of L665 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L665Ifs*8 | frameshift | loss of function - predicted | APC L665Ifs*8 indicates a shift in the reading frame starting at amino acid 665 and terminating 8 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L665Ifs*8 has not been characterized, however, due to the effects of other truncation mutations downstream of L665 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L684* | nonsense | loss of function - predicted | APC L684* results in a premature truncation of the Apc protein at amino acid 684 of 2843 (UniProt.org). L684* has not been characterized, however, due to the effects of other truncation mutations downstream of E684 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L795Sfs*25 | frameshift | loss of function - predicted | APC L795Sfs*25 indicates a shift in the reading frame starting at amino acid 795 and terminating 25 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). L795Sfs*25 has not been characterized, however, due to the effects of other truncation mutations downstream of L795 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L852* | nonsense | loss of function - predicted | APC L852* results in a premature truncation of the Apc protein at amino acid 852 of 2843 (UniProt.org). L852* has not been characterized, however, due to the effects of other truncation mutations downstream of L852 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| L954* | nonsense | loss of function - predicted | APC L954* results in a premature truncation of the Apc protein at amino acid 954 of 2843 (UniProt.org). L954* has not been characterized, however, due to the effects of other truncation mutations downstream of L954 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| LOH | deletion | unknown | APC LOH indicates the loss of one parental copy of the APC gene, resulting in loss of heterozygosity. | |
| M1431fs | frameshift | loss of function - predicted | APC M1431fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1431 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). M1431fs has not been characterized, however, due to the effects of other truncation mutations downstream of M1431 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| M1525Lfs*39 | frameshift | loss of function - predicted | APC M1525Lfs*39 indicates a shift in the reading frame starting at amino acid 1525 and terminating 39 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). M1525Lfs*39 has not been characterized, however, due to the effects of other truncation mutations downstream of M1525 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| mutant | unknown | unknown | APC mutant indicates an unspecified mutation in the APC gene. | |
| N1026S | missense | loss of function | APC N1026S lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). N1026S confers a loss of function on Apc, as indicated by diminished binding to Ctnnb1 and moderate activation of target genes in cell culture (PMID: 18166348). | |
| N1118D | missense | unknown | APC N1118D lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). N1118D has been identified in the scientific literature (PMID: 15122587, PMID: 29973652), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| N1142Y | missense | unknown | APC N1142Y lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). N1142Y has been identified in sequencing studies (PMID: 24983367), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| N1300fs | frameshift | loss of function - predicted | APC N1300fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1300 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N1300fs has not been characterized, however, due to the effects of other truncation mutations downstream of N1300 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| N1455fs | frameshift | loss of function - predicted | APC N1455fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1455 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N1455fs has not been characterized, however, due to the effects of other truncation mutations downstream of N1455 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| N1455Ifs*18 | frameshift | loss of function - predicted | APC N1455Ifs*18 indicates a shift in the reading frame starting at amino acid 1455 and terminating 18 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). N1455Ifs*18 has not been characterized, however, due to the effects of other truncation mutations downstream of N1455 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| N1819fs | frameshift | unknown | APC N1819fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1819 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N1819fs has been identified in the scientific literature (PMID: 28179481), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| N741fs | frameshift | loss of function - predicted | APC N741fs results in a change in the amino acid sequence of the Apc protein beginning at aa 741 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N741fs has not been characterized, however, due to the effects of other truncation mutations downstream of N741 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| N813S | missense | no effect - predicted | APC N813S does not lie within any known functional domains of the Apc protein (UniProt.org). N813S results in Axin2 signaling and Tcf/Lef transcriptional activity similar to wild-type Apc in cultured cells (PMID: 15133491), and therefore, is predicted to have no effect on Apc protein function. | |
| N869fs | frameshift | loss of function - predicted | APC N869fs results in a change in the amino acid sequence of the Apc protein beginning at aa 869 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). N869fs has not been characterized, however, due to the effects of other truncation mutations downstream of N869 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1076L | missense | unknown | APC P1076L lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). P1076L has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| P1319fs | frameshift | loss of function - predicted | APC P1319fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1319 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1319fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1319 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1361fs | frameshift | loss of function - predicted | APC P1361fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1361 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1361fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1361 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1372fs | frameshift | loss of function - predicted | APC P1372fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1372 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1372fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1372 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1373fs | frameshift | loss of function - predicted | APC P1373fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1373 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1373fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1373 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1420L | missense | unknown | APC P1420L lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1420L has been identified in sequencing studies (PMID: 16906516, PMID: 27998968), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| P1432H | missense | unknown | APC P1432H lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1432H has been identified in sequencing studies (PMID: 17558858), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| P1439fs | frameshift | loss of function - predicted | APC P1439fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1439 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1439fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1439 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1440fs | frameshift | loss of function - predicted | APC P1440fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1440 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1440fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1440 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1443fs | frameshift | loss of function - predicted | APC P1443fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1443 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1443fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1443 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1443Lfs*30 | frameshift | loss of function - predicted | APC P1443Lfs*30 indicates a shift in the reading frame starting at amino acid 1443 and terminating 30 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). P1443Lfs*30 has not been characterized, however, due to the effects of other truncation mutations downstream of P1443 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1453fs | frameshift | loss of function - predicted | APC P1453fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1453 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1453fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1453 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1453S | missense | unknown | APC P1453S lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1453S has been identified in sequencing studies (PMID: 16906516), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| P1458fs | frameshift | loss of function - predicted | APC P1458fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1458 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1458fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1458 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1483fs | frameshift | loss of function - predicted | APC P1483fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1483 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1483fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1483 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1497fs | frameshift | loss of function - predicted | APC P1497fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1497 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). P1497fs has not been characterized, however, due to the effects of other truncation mutations downstream of P1497 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| P1613H | missense | unknown | APC P1613H lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1613H has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| P1613S | missense | unknown | APC P1613S lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). P1613S has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| P950Afs*13 | frameshift | loss of function - predicted | APC P950Afs*13 indicates a shift in the reading frame starting at amino acid 950 and terminating 13 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). P950Afs*13 has not been characterized, however, due to the effects of other truncation mutations downstream of P950 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1067* | nonsense | loss of function - predicted | APC Q1067* results in a premature truncation of the Apc protein at amino acid 1067 of 2843 (UniProt.org). Q1067* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1067 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1096* | nonsense | loss of function - predicted | APC Q1096* results in a premature truncation of the Apc protein at amino acid 1096 of 2843 (UniProt.org). Q1096* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1096 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1096R | missense | unknown | APC Q1096R lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). Q1096R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| Q1127* | nonsense | loss of function - predicted | APC Q1127* results in a premature truncation of the Apc protein at amino acid 1127 of 2843 (UniProt.org). Q1127* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1127 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1131* | nonsense | loss of function - predicted | APC Q1131* results in a premature truncation of the Apc protein at amino acid 1131 of 2843 (UniProt.org). Q1131* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1131 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1291* | nonsense | loss of function - predicted | APC Q1291* results in a premature truncation of the Apc protein at amino acid 1291 of 2843 (UniProt.org). Q1291* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1291 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1294* | nonsense | loss of function - predicted | APC Q1294* results in a premature truncation of the Apc protein at amino acid 1294 of 2843 (UniProt.org). Q1294* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1294 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1294fs | frameshift | loss of function - predicted | APC Q1294fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1294 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Q1294fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1294 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1303* | nonsense | loss of function - predicted | APC Q1303* results in a premature truncation of the Apc protein at amino acid 1303 of 2843 (UniProt.org). Q1303* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1303 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1303fs | frameshift | loss of function - predicted | APC Q1303fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1303 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Q1303fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1303 (PMID: 18199528, PMID: 10346819), is predicted to lad to a loss of Apc protein function. | |
| Q1328* | nonsense | loss of function - predicted | APC Q1328* results in a premature truncation of the Apc protein at amino acid 1328 of 2843 (UniProt.org). Q1328* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1328 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1338* | nonsense | loss of function | APC Q1338* results in a premature truncation of the Apc protein at amino acid 1338 of 2843 (UniProt.org). Q1338* retains binding with Axin1 but confers a loss of function to Apc as demonstrated by decreased beta-catenin recruitment, phosphorylation, and ubiquitination in cultured cells (PMID: 34352208). | |
| Q1367* | nonsense | loss of function - predicted | APC Q1367* results in a premature truncation of the Apc protein at amino acid 1367 of 2843 (UniProt.org). Q1367* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1367 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1378* | nonsense | loss of function - predicted | APC Q1378* results in a premature truncation of the Apc protein at amino acid 1378 of 2843 (UniProt.org). Q1378* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1378 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1378fs | frameshift | loss of function - predicted | APC Q1378fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1378 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). APC Q1378fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1378 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1406* | nonsense | loss of function - predicted | APC Q1406* results in a premature truncation of the Apc protein at amino acid 1406 of 2843 (UniProt.org). Q1406* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1406 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1429* | nonsense | loss of function - predicted | APC Q1429* results in a premature truncation of the Apc protein at amino acid 1429 of 2843 (UniProt.org). Q1429* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1429 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1429fs | frameshift | loss of function - predicted | APC Q1429fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1429 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Q1429fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q1429 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1429R | missense | unknown | APC Q1429R lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). Q1429R has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| Q1444* | nonsense | loss of function - predicted | APC Q1444* results in a premature truncation of the Apc protein at amino acid 1444 of 2843 (UniProt.org). Q1444* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1444 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1447* | nonsense | loss of function - predicted | APC Q1447* results in a premature truncation of the Apc protein at aa 1447 of 2843 (UniProt.org). Q1447* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1447 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1469* | nonsense | loss of function - predicted | APC Q1469* results in a premature truncation of the Apc protein at amino acid 1469 of 2843 (UniProt.org). Q1469* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1469 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1480* | nonsense | loss of function - predicted | APC Q1480* results in a premature truncation of the Apc protein at amino acid 1480 of 2843 (UniProt.org). Q1480* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1480 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1517* | nonsense | loss of function - predicted | APC Q1517* results in a premature truncation of the Apc protein at amino acid 1517 of 2843 (UniProt.org). Q1517* results in reduced suppression of beta-catenin activity in culture (PMID: 18199528), and therefore, is predicted to lead to a loss of Apc protein function. | |
| Q1529* | nonsense | loss of function - predicted | APC Q1529* results in a premature truncation of the Apc protein at amino acid 1529 of 2843 (UniProt.org). Q1529* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1529 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q1916* | nonsense | unknown | APC Q1916* results in a premature truncation of the Apc protein at amino acid 1916 of 2843 (UniProt.org). Q1916* has been identified in the scientific literature (PMID: 31127692), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| Q1930Nfs*40 | frameshift | unknown | APC Q1930Nfs*40 indicates a shift in the reading frame starting at amino acid 1930 and terminating 40 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). Q1930Nfs*40 has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| Q203E | missense | unknown | APC Q203E lies within a coiled-coil domain of the Apc protein (UniProt.org). Q203E has been identified in sequencing studies (PMID: 34160418), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| Q2372* | nonsense | unknown | APC Q2372* results in a premature truncation of the Apc protein at amino acid 2372 of 2843 (UniProt.org). Q2372* has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| Q424* | nonsense | loss of function - predicted | APC Q424* results in a premature truncation of the Apc protein at amino acid 424 of 2843 (UniProt.org). Q424* has not been characterized, however, due to the effects of other truncation mutations downstream of Q424 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Q886* | nonsense | loss of function - predicted | APC Q886* results in a premature truncation of the Apc protein at amino acid 886 of 2843 (UniProt.org). Q886* has not been characterized, however, due to the effects of other truncation mutations downstream of Q886 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R106C | missense | unknown | APC R106C does not lie within any known functional domains of the Apc protein (UniProt.org). R106C has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| R1114* | nonsense | loss of function - predicted | APC R1114* results in a premature truncation of the Apc protein at amino acid 1114 of 2843 (UniProt.org). R1114* has not been characterized, however, due to the effects of other truncation mutations downstream of R1114 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R1158K | missense | unknown | APC R1158K lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). R1158K has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| R1171H | missense | unknown | APC R1171H lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). R1171H has been identified in sequencing studies (PMID: 1338691, PMID: 25886620), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| R1314fs | frameshift | loss of function - predicted | APC R1314fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1314 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). R1314fs has not been characterized, however, due to the effects of other truncation mutations downstream of R1314 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R1348fs | frameshift | loss of function - predicted | APC R1348fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1348 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). R1348fs has not been characterized, however, due to the effects of other truncation mutations downstream of R1348 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R1399F | missense | unknown | APC R1399F lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). R1399F has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| R1399Ffs*9 | frameshift | loss of function - predicted | APC R1399Ffs*9 indicates a shift in the reading frame starting at amino acid 1399 and terminating 9 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). R1399Ffs*9 has not been characterized, however, due to the effects of other truncation mutations downstream of R1399 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R1435* | nonsense | loss of function - predicted | APC R1435* results in a premature truncation of the Apc protein at amino acid 1435 of 2843 (UniProt.org). R1435* has not been characterized, however, due to the effects of other truncation mutations downstream of R1435 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R1435fs | frameshift | loss of function - predicted | APC R1435fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1435 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). R1435fs has not been characterized, however, due to the effects of other truncation mutations downstream of R1435 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R1450* | nonsense | loss of function - predicted | APC R1450* results in a premature truncation of the Apc protein at amino acid 1450 of 2843 (UniProt.org). R1450* results in reduced suppression of beta-catenin activity in culture (PMID: 18199528), and therefore, is predicted to lead to a loss of Apc protein function. | |
| R1835T | missense | unknown | APC R1835T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). R1835T has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| R213* | nonsense | loss of function - predicted | APC R213* results in a premature truncation of the Apc protein at amino acid 213 of 2843 (UniProt.org). R213* has not been characterized, however, due to the effects of other truncation mutations downstream of R213 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R216* | nonsense | loss of function - predicted | APC R216* results in a premature truncation of the Apc protein at amino acid 216 of 2843 (UniProt.org). R216* has not been characterized, however, due to the effects of other truncation mutations downstream of R216 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R2204* | nonsense | unknown | APC R2204* results in a premature truncation of the Apc protein at amino acid 2204 of 2843 (UniProt.org). R2204* has been identified in sequencing studies (PMID: 26681737, PMID: 31127692), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| R2237* | nonsense | unknown | APC R2237* results in a premature truncation of the Apc protein at amino acid 2237 of 2843 (UniProt.org). R2237* has been identified in the scientific literature (PMID: 31175091), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| R230C | missense | unknown | APC R230C lies within a coiled-coil domain of the Apc protein (UniProt.org). R230C has been identified in sequencing studies (PMID: 26343386, PMID: 27149842, PMID: 22185227), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| R232* | nonsense | loss of function - predicted | APC R232* results in a premature truncation of the Apc protein at amino acid 232 of 2843 (UniProt.org). R232* has not been characterized, however, due to the effects of other truncation mutations downstream of R232 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R2525C | missense | unknown | APC R2525C does not lie within any known functional domains of the Apc protein (UniProt.org). R2525C has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| R2673G | missense | unknown | APC R2673G does not lie within any known functional domains of the Apc protein (UniProt.org). R2673G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2024). | |
| R2714C | missense | unknown | APC R2714C does not lie within any known functional domains of the Apc protein (UniProt.org). R2714C has been identified in sequencing studies (PMID: 20579941, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| R283* | nonsense | loss of function - predicted | APC R283* results in a premature truncation of the Apc protein at amino acid 283 of 2843 (UniProt.org). R283* has not been characterized, however, due to the effects of other truncation mutations downstream of R283 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R283Q | missense | unknown | APC R283Q does not lie within any known functional domains of the Apc protein (Uniprot.org). R283Q has been identified in sequencing studies (PMID: 34160418), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| R302* | nonsense | loss of function - predicted | APC R302* results in a premature truncation of the Apc protein at amino acid 302 of 2843 (UniProt.org). R302* has not been characterized, however, due to the effects of other truncation mutations downstream of R302 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R374W | missense | unknown | APC R374W does not lie within any known functional domains of the Apc protein (UniProt.org). R374W has been identified in sequencing studies (PMID: 29684080), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| R405* | nonsense | loss of function - predicted | APC R405* results in a premature truncation of the Apc protein at amino acid 405 of 2843 (UniProt.org). R405* has not been characterized, however, due to the effects of other truncation mutations downstream of R405 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R499* | nonsense | loss of function - predicted | APC R499* results in a premature truncation of the Apc protein at amino acid 499 of 2843 (UniProt.org). R499* has not been characterized, however, due to the effects of other truncation mutations downstream of R499 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R554* | nonsense | loss of function - predicted | APC R554* results in a premature truncation of the Apc protein at amino acid 554 of 2843 (UniProt.org). R554* has not been characterized, however, due to the effects of other truncation mutations downstream of R554 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R564* | nonsense | loss of function - predicted | APC R564* results in a premature truncation of the Apc protein at amino acid 564 of 2843 (UniProt.org). R564* has not been characterized, however, due to the effects of other truncation mutations downstream of R564 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R640G | missense | loss of function - predicted | APC R640G lies within ARM repeat 5 of the Apc protein (UniProt.org). R640G has not been biochemically characterized, however, the nucleotide change results in exon 14 skipping and the production of a truncated Apc protein (PMID: 19111562), and therefore, is predicted to lead to a loss of Apc protein function. | |
| R653K | missense | unknown | APC R653K lies within ARM repeat 5 of the Apc protein (UniProt.org). R653K has been identified in sequencing studies (PMID: 28179590, PMID: 18199528), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| R805* | nonsense | loss of function - predicted | APC R805* results in a premature truncation of the Apc protein at amino acid 805 of 2843 (UniProt.org). R805* is transforming in cell culture (PMID: 28769798), and due to the effects of other truncation mutations downstream of R805 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R805Q | missense | unknown | APC R805Q does not lie within any known functional domains of the Apc protein (UniProt.org). R805Q has been identified in sequencing studies (PMID: 31320401), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| R876* | nonsense | loss of function - predicted | APC R876* results in a premature truncation of the Apc protein at amino acid 876 of 2843 (UniProt.org). R876* has not been characterized, however, due to the effects of other truncation mutations downstream of R876 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| R876Q | missense | unknown | APC R876Q does not lie within any known functional domains of the Apc protein (UniProt.org). R876Q has been identified in sequencing studies (PMID: 22895193, PMID: 29684080), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| R99W | missense | unknown | APC R99W does not lie within any known functional domains of the Apc protein (UniProt.org). R99W has been identified in sequencing studies (PMID: 34646395, PMID: 36013219), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| S1197* | nonsense | loss of function - predicted | APC S1197* results in a premature truncation of the Apc protein at amino acid 1197 of 2843 (UniProt.org). S1197* has not been characterized, however, due to the effects of other truncation mutations downstream of S1197 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1215* | nonsense | loss of function - predicted | APC S1215* results in a premature truncation of the Apc protein at amino acid 1215 of 2843 (UniProt.org). S1215* has not been characterized, however, due to the effects of other truncation mutations downstream of S1215 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1278* | nonsense | loss of function - predicted | APC S1278* results in a premature truncation of the Apc protein at amino acid 1278 of 2843 (UniProt.org). S1278* has not been characterized, however, due to the effects of other truncation mutations downstream of S1278 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S130G | missense | no effect - predicted | APC S130G lies within a coiled-coil domain of the Apc protein (UniProt.org). S130G does not result in increased Wnt signaling in cell culture (PMID: 15133491), and therefore, is predicted to have no effect on Apc protein function. | |
| S1315* | nonsense | loss of function - predicted | APC S1315* results in a premature truncation of the Apc protein at amino acid 1315 of 2843 (UniProt.org). S1315* has not been characterized, however, due to the effects of other truncation mutations downstream of S1315 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1315fs | frameshift | loss of function - predicted | APC S1315fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1315 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1315fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1315 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1344* | nonsense | loss of function - predicted | APC S1344* results in a premature truncation of the Apc protein at amino acid 1344 of 2843 (UniProt.org). S1344* has not been characterized, however, due to the effects of other truncation mutations downstream of S1344 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1346* | nonsense | loss of function - predicted | APC S1346* results in a premature truncation of the Apc protein at amino acid 1346 of 2843 (UniProt.org). S1346* has not been characterized, however, due to the effects of other truncation mutations downstream of S1346 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1355fs | frameshift | loss of function - predicted | APC S1355fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1355 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1355fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1355 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1355P | missense | unknown | APC S1355P lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). S1355P has been identified in sequencing studies (PMID: 17558858, PMID: 29523763), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| S1356* | nonsense | loss of function - predicted | APC S1356* results in a premature truncation of the Apc protein at amino acid 1356 of 2843 (UniProt.org). S1356* has not been characterized, however, due to the effects of other truncation mutations downstream of S1356 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1356fs | frameshift | loss of function - predicted | APC S1356fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1356 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1356fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1356 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1364fs | frameshift | loss of function - predicted | APC S1364fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1364 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1364fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1364 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1400* | nonsense | loss of function - predicted | APC S1400* results in a premature truncation of the Apc protein at amino acid 1400 of 2843 (UniProt.org). S1400* has not been characterized, however, due to the effects of other truncation mutations downstream of S1400 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1411fs | frameshift | loss of function - predicted | APC S1411fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1411 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1411fs has not been characterized, however, due to the effects of truncation mutations downstream of S1411 (PMID: 10346819, PMID: 18199528), is predicted to lead to a loss in Apc protein function. | |
| S1421Rfs*52 | frameshift | loss of function - predicted | APC S1421Rfs*52 indicates a shift in the reading frame starting at amino acid 1421 and terminating 52 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). S1421Rfs*52 has not been characterized, however, due to the effects of other truncation mutations downstream of S1421 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1436fs | frameshift | loss of function - predicted | APC S1436fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1436 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1436fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1436 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1465fs | frameshift | loss of function - predicted | APC S1465fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1465 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1465fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1465 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1465Wfs*3 | frameshift | loss of function - predicted | APC S1465Wfs*3 indicates a shift in the reading frame starting at amino acid 1465 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). S1465Wfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of S1465 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1495fs | frameshift | loss of function - predicted | APC S1495fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1495 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S1495fs has not been characterized, however, due to the effects of other truncation mutations downstream of S1495 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S1495I | missense | unknown | APC S1495I lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). S1495I has been identified in sequencing studies (PMID: 21807601, PMID: 27121310), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| S2497L | missense | unknown | APC S2497L does not lie within any known functional domains of the Apc protein (UniProt.org). S2497L has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| S2685G | missense | unknown | APC S2685G does not lie within any known functional domains of the Apc protein (UniProt.org). S2685G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| S299Tfs*7 | frameshift | loss of function - predicted | APC S299Tfs*7 indicates a shift in the reading frame starting at amino acid 299 and terminating 7 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). S299Tfs*7 has not been characterized, however, due to the effects of other truncation mutations downstream of S299 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S31fs | frameshift | loss of function - predicted | APC S31fs results in a change in the amino acid sequence of the Apc protein beginning at aa 31 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). S31fs has not been characterized, however, due to the effects of other truncation mutations downstream of S31 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S320* | nonsense | loss of function - predicted | APC S320* results in a premature truncation of the Apc protein at amino acid 320 of 2843 (UniProt.org). S320* has not been characterized, however, due to the effects of other truncation mutations downstream of S320 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S457* | nonsense | loss of function - predicted | APC S457* results in a premature truncation of the Apc protein at amino acid 457 of 2843 (UniProt.org). S457* has not been characterized, however, due to the effects of other truncation mutations downstream of S457 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S590N | missense | unknown | APC S590N lies within ARM repeat 3 of the Apc protein (UniProt.org). S590N has been identified in sequencing studies (PMID: 28002797), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| S811* | nonsense | loss of function | APC S811* results in a premature truncation of the Apc protein at amino acid 811 of 2843 (UniProt.org). S811* retains binding with Axin1 but confers a loss of function to Apc as demonstrated by decreased beta-catenin recruitment, phosphorylation, and ubiquitination in culture (PMID: 34352208), and activation of Wnt signaling in reporter assays (PMID: 28179481). | |
| S837* | nonsense | loss of function - predicted | APC S837* results in a premature truncation of the Apc protein at amino acid 837 of 2843 (UniProt.org). S837* has not been characterized, however, due to the effects of other truncation mutations downstream of S837 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S843Lfs*17 | frameshift | loss of function - predicted | APC S843Lfs*17 indicates a shift in the reading frame starting at amino acid 843 and terminating 17 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). S843Lfs*17 has not been characterized, however, due to the effects of other truncation mutations downstream of S843 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| S940L | missense | unknown | APC S940L does not lie within any known functional domains of the Apc protein (UniProt.org). S940L has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| T1160K | missense | unknown | APC T1160K lies within the beta-catenin binding domain of the Apc protein (PMID: 14672538). T1160K has been identified in the scientific literature (PMID: 29212164), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| T1301fs | frameshift | loss of function - predicted | APC T1301fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1301 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1301fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1301 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| T1301Pfs*4 | frameshift | loss of function - predicted | APC T1301Pfs*4 indicates a shift in the reading frame starting at amino acid 1301 and terminating 4 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T1301Pfs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of T1301 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| T1301S | missense | unknown | APC T1301S lies within a region of the Apc protein responsible for downregulation mediated by ubiquitination (UniProt.org). T1301S has been identified in sequencing studies (PMID: 8118796), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| T1438fs | frameshift | loss of function - predicted | APC T1438fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1438 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1438fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1438 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| T1445fs | frameshift | loss of function - predicted | APC T1445fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1445 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1445fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1445 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| T1459fs | frameshift | loss of function - predicted | APC T1459fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1459 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1459fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1459 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| T1487fs | frameshift | loss of function - predicted | APC T1487fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1487 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1487fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1487 (PMID: 10346819, PMID: 18199528), is predicted to lead to a loss of Apc protein function. | |
| T1487Ifs*21 | frameshift | loss of function - predicted | APC T1487Ifs*21 indicates a shift in the reading frame starting at amino acid 1487 and terminating 21 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T1487Ifs*21 has not been characterized, however, due to the effects of other truncation mutations downstream of T1487 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| T1493fs | frameshift | loss of function - predicted | APC T1493fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1493 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1493fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1493 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| T1496fs | frameshift | loss of function - predicted | APC T1496fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1496 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1496fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1496 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| T1556fs | frameshift | loss of function - predicted | APC T1556fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1556 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). T1556fs has not been characterized, however, due to the effects of other truncation mutations downstream of T1556 (PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| T1556Nfs*3 | frameshift | loss of function | APC T1556Nfs*3 indicates a shift in the reading frame starting at amino acid 1556 and terminating 3 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T1556Nfs*3 retains binding with Axin1 but confers a loss of function to Apc as demonstrated by decreased beta-catenin recruitment, phosphorylation, and ubiquitination in cultured cells (PMID: 34352208). | |
| T518A | missense | unknown | APC T518A lies within ARM repeat 2 of the Apc protein (UniProt.org). T518A has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| T621Lfs*9 | frameshift | loss of function - predicted | APC T621Lfs*9 indicates a shift in the reading frame starting at amino acid 621 and terminating 9 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T621Lfs*9 has not been characterized, however, due to the effects of other truncation mutations downstream of T621 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| T683P | missense | unknown | APC T683P lies within ARM repeat 5 of the Apc protein (UniProt.org). T683P has been identified in sequencing studies (PMID: 29990497), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| T829Sfs*14 | frameshift | loss of function - predicted | APC T829Sfs*14 indicates a shift in the reading frame starting at amino acid 829 and terminating 14 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T829Sfs*14 has not been characterized, however, due to the effects of other truncation mutations downstream of T829 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| V1352A | missense | unknown | APC V1352A lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). V1352A has been identified in sequencing studies (PMID: 26530882, PMID: 29069792), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| V1352Lfs*63 | frameshift | loss of function - predicted | APC V1352Lfs*63 indicates a shift in the reading frame starting at amino acid 1352 and terminating 63 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). V1352Lfs*63 has not been characterized, however, due to the effects of other truncation mutations downstream of V1352 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| V1377fs | frameshift | loss of function - predicted | APC V1377fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1377 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). V1377fs has not been characterized, however, due to the effects of other truncation mutations downstream of V1377 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| V1452I | missense | unknown | APC V1452I lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). V1452I has been identified in sequencing studies (PMID: 27311873, PMID: 27147599, PMID: 36142267), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| V1472fs | frameshift | loss of function - predicted | APC V1472fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1472 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). V1472fs has not been characterized, however, due to the effects of other truncation mutations downstream of V1472 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| V1472I | missense | unknown | APC V1472I lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). V1472I has been identified in sequencing studies (PMID: 10666372), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| V1804D | missense | unknown | APC V1804D lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). V1804D has been identified in sequencing studies (PMID: 25528188), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| V1822D | missense | unknown | APC V1822D lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). V1822D is a common Apc polymorphism (PMID: 11584047, PMID: 16569251, PMID: 11221825), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| V2112I | missense | unknown | APC V2112I does not lie within any known functional domains of the Apc protein (UniProt.org). V2112I has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Dec 2023). | |
| V830Gfs*12 | frameshift | loss of function - predicted | APC V830Gfs*12 indicates a shift in the reading frame starting at amino acid 830 and terminating 12 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). V830Gfs*12 has not been characterized, however, due to the effects of other truncation mutations downstream of V830 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| W421* | nonsense | loss of function - predicted | APC W421* results in a premature truncation of the Apc protein at amino acid 421 of 2843 (UniProt.org). W421* has not been characterized, however, due to the effects of other truncation mutations downstream of W421 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| W553* | nonsense | loss of function - predicted | APC W553* results in a premature truncation of the Apc protein at amino acid 553 of 2843 (UniProt.org). W553* has not been characterized, however, due to the effects of other truncation mutations downstream of W553 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| W685R | missense | unknown | APC W685R lies within ARM repeat 6 of the Apc protein (UniProt.org). W685R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| wild-type | none | no effect | Wild-type APC indicates that no mutation has been detected within the APC gene. | |
| Y1376* | nonsense | loss of function - predicted | APC Y1376* results in a premature truncation of the Apc protein at amino acid 1376 of 2843 (UniProt.org). Y1376* has not been characterized, however, due to the effects of other truncation mutations downstream of Y1376 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Y1376fs | frameshift | loss of function - predicted | APC Y1376fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1376 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Y1376fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y1376 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Y158H | missense | unknown | APC Y158H lies within a coiled-coil domain of the Apc protein (UniProt.org). Y158H has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2024). | |
| Y737* | nonsense | loss of function - predicted | APC Y737* results in a premature truncation of the Apc protein at amino acid 737 of 2843 (UniProt.org). Y737* has not been characterized, however, due to the effects of other truncation mutations downstream of Y737 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Y935* | nonsense | loss of function - predicted | APC Y935* results in a premature truncation of the Apc protein at amino acid 935 of 2843 (UniProt.org). Y935* has not been characterized, however, due to the effects of other truncation mutations downstream of Y935 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. | |
| Y935fs | frameshift | loss of function - predicted | APC Y935fs results in a change in the amino acid sequence of the Apc protein beginning at aa 935 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). Y935fs has not been characterized, however, due to the effects of other truncation mutations downstream of Y935 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. |
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