Gene Detail

Gene Symbol APC
Synonyms BTPS2 | DP2 | DP2.5 | DP3 | GS | PPP1R46
Gene Description APC, adenomatous polyposis coli, is a multi-domain protein regulating numerous cellular functions through interaction with beta-catenin and subsequent inhibition of Wnt signalling (PMID: 21502284). APC germline mutations are associated with familial adenomatous polyposis and somatic mutations with colon, endometrial, NSCLC, and breast cancers (PMID: 27283171).
ACMG Incidental List v2.0:
Yes, Adenomatous polyposis coli (PMID: 27854360)
Entrez Id 324
Chromosome 5
Map Location 5q22.2
Canonical Transcript NM_000038

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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, Mar 2018).
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 Apc truncation mutants downstream of T1459 are inactivating (PMID: 18199528) thus, T1459fs 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 an Apc truncation at I1572 (PMID: 10346819), A1475fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 Apc truncation mutants downstream of K1462 are inactivating (PMID: 18199528) thus, K1462fs is predicted to lead to a loss of Apc protein function.
A214V missense unknown APC A214V does not lie within any known functional domains 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, Mar 2018).
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 loss of the beta-catenin binding and down-regulation regions (PMID: 14672538), Y737* 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 an Apc truncation at I1572 (PMID: 10346819), K1370* is predicted to reduce the ability of Apc to regulate beta-catenin.
N1142Y missense unknown APC N1142Y lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). N1142Y has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2018).
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 Apc truncation mutants downstream of N1300 are inactivating (PMID: 18199528) thus, N1300fs 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, Apr 2018).
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 an Apc truncation at I1572 (PMID: 10346819), Y1376* is predicted to reduce the ability of Apc to regulate beta-catenin.
T683P missense unknown APC T683P lies within the ARM repeat 5 of the Apc protein (UniProt.org). T683P has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
D1003N missense unknown APC D1003N lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). D1003N has been identified in sequencing studies (PMID: 25545608), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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, Apc truncation mutants downstream of R554 are inactivating (PMID: 18199528) thus, R554* is predicted to lead to a loss of Apc protein function.
L684* nonsense loss of function - predicted APC E684* results in a premature truncation of the Apc protein at amino acid 684 of 2843 (UniProt.org). Due to the loss of the beta-catenin binding and down-regulation region (PMID: 14672538), E684* 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 an Apc truncation at I1572 (PMID: 10346819), D1422fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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* is predicted to confer a loss of function to the Apc protein due to the loss of the highly charged and PDZ domains (UniProt.org).
R1171H missense unknown APC R1171H lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). R1171H has been identified in sequencing studies (PMID: 1338691), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2018).
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 an Apc truncation at I1572 (PMID: 10346819), A1316fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), D1486fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 Apc truncation mutants downstream of T1493 are inactivating (PMID: 18199528) thus, T1493fs is predicted to lead to a loss of Apc protein function.
I1926M missense unknown APC I1926M lies within the beta-catenin binding and down-regulation 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 2018).
K1817fs frameshift loss of function - predicted 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, however Apc truncation mutants downstream of K1817 are inactivating (PMID: 18199528) thus, K1817fs is predicted to lead to a loss of Apc protein function.
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* is predicted to confer a loss of function to the Apc protein due to the loss of the highly charged and PDZ domains (UniProt.org).
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, Mar 2018).
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). Due to the loss of the beta-catenin binding and down-regulation region (PMID: 14672538), E190* 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 Apc truncation mutants downstream of P1440 are inactivating (PMID: 18199528) thus, P1440fs 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 an Apc truncation at I1572 (PMID: 10346819), Q1480* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), E1322* is predicted to reduce the ability of Apc to regulate beta-catenin.
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, Mar 2018).
Q1444* nonsense loss of function - predicted APC Q1444* results in a premature truncation of the Apc protein at amino acid 1444 of 2843 within the Ctnnb1 binding and down-regulation domain of the Apc protein (PMID: 14672538). Q1444* has not been characterized, however Apc truncation mutants downstream of Q1444 are inactivating (PMID: 18199528) thus, Q1444* 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 an Apc truncation at I1572 (PMID: 10346819), S1495fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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, Apc truncation mutants downstream of P1439 are inactivating (PMID: 18199528) and thus, P1439fs is predicted to lead to a loss of Apc protein function.
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 an Apc truncation at I1572 (PMID: 10346819), E1451* is predicted to reduce the ability of Apc to regulate beta-catenin.
R1835T missense unknown APC R1835T lies within the beta-catenin binding and down-regulation 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, Jan 2018).
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). Due to the loss of all known functional domains (UniProt.org), R283* 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 within the Ctnnb1 binding and down-regulation domain (PMID: 14672538). L1488* has not been characterized, however Apc truncation mutants downstream of L1488 are inactivating (PMID: 18199528) thus, L1488* is predicted to lead to a loss of Apc protein function.
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, Apc truncation mutations downstream of L665 are inactivating (PMID: 18199528, PMID: 16798748), thus, L665* is predicted to lead to a loss of Apc protein function.
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 an Apc truncation at I1572 (PMID: 10346819), A1305fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), D1425fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 Apc truncation mutants downstream of Q1294 are inactivating (PMID: 18199528) thus, Q1294fs is predicted to lead to a loss of Apc protein function.
D1022G missense unknown APC D1022G lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). D1022G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
wild-type none no effect Wild-type APC indicates that no mutation has been detected within the APC gene.
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 Apc truncation mutants downstream of L1488 are inactivating (PMID: 18199528) thus, L1488fs 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 an Apc truncation at I1572 (PMID: 10346819), C1410* is predicted to reduce the ability of Apc to regulate beta-catenin.
Y158H missense unknown APC Y158H lies within the 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 2018).
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 an Apc truncation at I1572 (PMID: 10346819), A1296fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), N1455Ifs*18 is predicted to reduce the ability of Apc to regulate beta-catenin.
T1487fs nonsense 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 Apc truncation mutations downstream of T1487 (PMID: 10346819, PMID: 18199528), T1487fs is predicted to result in a loss in Apc protein function.
E1306K missense unknown APC E1306K lies within a region of the Apc protein responsible for down-regulation 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, Apr 2018).
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 an Apc truncation at I1572 (PMID: 10346819), A1471fs is predicted to reduce the ability of Apc to regulate beta-catenin.
D1297A missense unknown APC D1297A lies within a region of the Apc protein responsible for down-regulation 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, Apr 2018).
L1564* nonsense loss of function - predicted APC L1564* results in a premature truncation of the Apc protein at amino acid 1564 of 2843 within the Ctnnb1 binding and down-regulation domain (PMID: 14672538). L1564* has not been characterized, however Apc truncation mutants downstream of L1488 are inactivating (PMID: 18199528) thus, L1564* 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). Due to the loss of the majority of the beta-catenin binding and downregulation region (PMID: 14672538), C1387* 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 Apc truncation mutants downstream of Q1378 are inactivating (PMID: 18199528) thus, Q1378fs is predicted to lead to a loss of Apc protein function.
W685R missense unknown APC W685R lies within ARM 6 repeat 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 2018).
D1425A missense unknown APC D1425A lies within the beta-catenin binding and down-regulation 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, Mar 2018).
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 Apc truncation mutants downstream of N741 are inactivating (PMID: 18199528) thus, N741fs is predicted to lead to a loss of Apc protein function.
V1472I missense unknown APC V1472I does not lie within any known functional domains of the Apc protein (UniProt.org). 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 2018).
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 an Apc truncation at I1572 (PMID: 10346819), E1494fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), E1295* is predicted to reduce the ability of Apc to regulate beta-catenin.
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) but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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). APC R1314fs has not been characterized, however Apc truncation mutants downstream of R1314 are inactivating (PMID: 18199528) thus, R1314fs is predicted to lead to a loss of Apc protein function.
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 an Apc truncation at I1572 (PMID: 10346819), H1375fs is predicted to reduce the ability of Apc to regulate beta-catenin.
G1339_S1340dup duplication unknown APC G1339_S1340dup indicates the insertion of 2 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, Mar 2018).
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). Due to the loss of the beta-catenin binding and down-regulation region (PMID: 14672538), C207* 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 loss of the beta-catenin binding and down-regulation regions (PMID: 14672538), Y935* is predicted to lead to a loss of Apc protein function.
A1553T missense unknown APC A1553T does not lie within any known functional domains of the Apc protein (UniProt.org). A1553T has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
P1076L missense unknown APC P1076L lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). P1076L has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2018).
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 an Apc truncation at I1572 (PMID: 10346819), E1374* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 Apc truncation mutants downstream of T1301 are inactivating (PMID: 18199528) thus, T1301fs is predicted to lead to a loss of Apc protein function.
P1613S missense unknown APC P1613S lies within the beta-catenin binding and down-regulation domain of the Apc protein (UniProt.org). P1613S has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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, Apc truncation mutants downstream of Q1067 are inactivating (PMID: 18199528) thus, Q1067* is predicted to lead to a loss of Apc protein function.
S590N missense unknown APC S590N lies within the ARM repeat 3 of the Apc protein (UniProt.org). S590N has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Jan 2018).
R1114* nonsense loss of function - predicted APC R1114* results in a premature truncation of the Apc protein at amino acid 1114 of 2843 within the Ctnnb1 binding domain of the Apc protein (PMID: 14672538). R1114* has not been characterized, however Apc truncation mutants downstream of R1114 are inactivating (PMID: 18199528) thus, R1114* 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 an Apc truncation at I1572 (PMID: 10346819), E1554fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), D1484fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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.
Q1406* nonsense loss of function - predicted APC Q1406* results in a premature truncation of the Apc protein at amino acid 1406 of 2843 within the Ctnnb1 binding and down-regulation domain of the Apc protein (PMID: 14672538). Q1406* has not been characterized, however Apc truncation mutants downstream of Q1406 are inactivating (PMID: 18199528) thus, Q1406* 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, Apc truncation mutants downstream of E763 are inactivating (PMID: 18199528) thus, E763* 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 an Apc truncation at I1572 (PMID: 10346819), E1552* is predicted to reduce the ability of Apc to regulate beta-catenin.
G1499R missense unknown APC G1499R lies within the beta-catenin binding and down-regulation 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, Mar 2018).
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 Apc truncation mutants downstream of R1348 are inactivating (PMID: 18199528) thus, R1348fs 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 an Apc truncation at I1572 (PMID: 10346819), D1318fs is predicted to reduce the ability of Apc to regulate beta-catenin.
L1129S missense unknown APC L1129S lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). L1129S has been identified in the scientific literature (PMID: 18166348), but has not been characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2018).
E129Q missense unknown APC E129Q lies within a coiled-coil domain of the Apc protein (UniProt.org) E129Q has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2018).
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), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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). Due to the loss of the 20-amino acid repeats involved in Beta-catenin degradation (PMID: 28179481), S1278* is predicted to lead to a loss of Apc protein function.
C1410S missense unknown APC C1410S does not lie within any known functional domains of the Apc protein (UniProt.org). C1410S has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
S1355P missense unknown APC S1355P lies within the beta-catenin binding and down-regulation region of the Apc protein (PMID: 14672538). S1355P 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, Mar 2018).
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 an Apc truncation at I1572 (PMID: 10346819), G1357fs is predicted to reduce the ability of Apc to regulate beta-catenin.
G2303R missense unknown APC G2303R does not lie within any known functional domains of the Apc protein (UniProt.org). G2303R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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 an Apc truncation at I1572 (PMID: 10346819), Q1447* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), E1353* is predicted to reduce the ability of Apc to regulate beta-catenin.
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), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2018).
Q1131* nonsense loss of function - predicted APC Q1131* results in a premature truncation of the Apc protein at amino acid 1131 of 2843 within the beta-catenin binding region of the Apc protein (PMID: 14672538). Q1131* has not been characterized, however Apc truncation mutants downstream of Q1131 are inactivating (PMID: 18199528) thus, Q1131* 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). Due to the loss of the 20-amino acid repeats involved in beta-catenin degradation (PMID: 28179481), S1215* is predicted to lead to a loss of Apc protein function.
D1422H missense unknown APC D1422H lies within the beta-catenin binding and down-regulation 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, Apr 2018).
E853* nonsense loss of function - predicted APC E853* results in a premature truncation of the Apc protein at amino acid 853 of 2843 within the mutator cluster region of the Apc protein (PMID: 14672538). E853* has not been characterized, however Apc truncation mutants downstream of E853 are inactivating (PMID: 18199528) thus, E853* 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, Apc truncation mutants downstream of V1377 are inactivating (PMID: 18199528) thus, V1377fs 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). Due to disruption of the Armadillo domain and loss of the beta-catenin binding and down-regulation domains (PMID: 19573802), W553* 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), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2018).
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 an Apc truncation at I1572 (PMID: 10346819), E1379* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), A1402fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), C1289fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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, Apr 2018).
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 Apc truncation mutants downstream of T1438 are inactivating (PMID: 18199528) thus, T1438fs 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 an Apc truncation at I1572 (PMID: 10346819), E1306fs is predicted to reduce the ability of Apc to regulate beta-catenin.
mutant unknown unknown APC mutant indicates an unspecified mutation in the APC gene.
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 Apc truncation mutants downstream of I1164 are inactivating (PMID: 18199528, PMID: 10346819), thus, I1164fs 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 an Apc truncation at I1572 (PMID: 10346819), E1464* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 2018).
K1555* nonsense loss of function - predicted APC K1555* results in a premature truncation of the Apc protein at amino acid 1555 of 2843 within the mutator cluster region of the Apc protein (PMID: 14672538). K1555* has not been characterized, however Apc truncation mutants downstream of K1555 are inactivating (PMID: 18199528) thus, K1555* 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, Apc truncation mutants downstream of F1354 are inactivating (PMID: 18199528) thus, F1354fs is predicted to lead to a loss of Apc protein function.
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, Apc truncation mutants downstream of I606 are inactivating (PMID: 18199528) thus, I606fs 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 Apc truncation mutants downstream of P1453 are inactivating (PMID: 18199528) thus, P1453fs 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 down-regulation 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, Apr 2018).
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 an Apc truncation at I1572 (PMID: 10346819), S1436fs is predicted to reduce the ability of Apc to regulate beta-catenin.
S1315* nonsense loss of function - predicted APC S1315* results in a premature truncation of the Apc protein at amino acid 1370 of 2843 (UniProt.org). S1315* has not been characterized, however, due to the effects of an Apc truncation at I1572 (PMID: 10346819), S1315* is predicted to reduce the ability of Apc to regulate beta-catenin.
N1026S missense loss of function APC N1026S does not lie within any known functional domains of the Apc protein (UniProt.org). N1026S confers a loss of function on Apc, as indicated by diminished binding to beta catenin and moderate activation of target genes in cell culture (PMID: 18166348).
V1804D missense unknown APC V1804D does not lie within any known functional domains of the Apc protein (UniProt.org). V1804D has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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 an Apc truncation at I1572 (PMID: 10346819), E1554* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), I1311fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), S1465fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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). Due to the loss of the 20-amino acid repeats involved in beta-catenin degradation (PMID: 28179481), S1197* 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). Due to the loss of the beta-catenin binding and down-regulation regions (PMID: 14672538), R499* 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, Apc truncation mutants downstream of S1400 are inactivating (PMID: 18199528) thus, S1400* 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 within the Ctnnb1 binding and down-regulation domain of the Apc protein (PMID: 14672538). R1435* has not been characterized, however Apc truncation mutants downstream of R1435 are inactivating (PMID: 18199528) thus, R1435* is predicted to lead to a loss of Apc protein function.
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, Mar 2018).
V1822D missense unknown APC V1822D does not lie within any known functional domains of the Apc protein (UniProt.org). There is conflicting evidence on the effect of V1822D on Apc protein function (PMID: 20844743).
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 an Apc truncation at I1572 (PMID: 10346819), A1492fs is predicted to reduce the ability of Apc to regulate beta-catenin.
P1432H missense unknown APC P1432H lies within the beta-catenin binding and down-regulation 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, Mar 2018).
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 Apc truncation mutants downstream of P1458 are inactivating (PMID: 18199528) thus, P1458fs is predicted to lead to a loss of Apc protein function.
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). Due to the loss of the Armadillo repeat and the beta-catenin binding and down-regulation regions (PMID: 14672538), R405* is predicted to lead to a loss of Apc protein function.
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 an Apc truncation at I1572 (PMID: 10346819), S1356* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 Apc truncation mutants downstream of L1489 are inactivating (PMID: 18199528) thus, L1489fs is predicted to lead to a loss of Apc protein function.
S811* nonsense loss of function - predicted APC S811* results in a premature truncation of the Apc protein at amino acid 811 of 2843 (UniProt.org). S811* results in loss of the 20-amino acid repeats of Apc involved in degradation of Beta-catenin and leads to TCF/LEF activity in culture (PMID: 28179481), and thus is predicted to result in a loss of Apc 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 Apc truncation mutants downstream of N1455 are inactivating (PMID: 18199528) thus, N1455fs 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 an Apc truncation at I1572 (PMID: 10346819), E1317* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), K1310fs is predicted to reduce the ability of Apc to regulate beta-catenin.
V1352A missense unknown APC V1352A lies within the beta-catenin binding and down-regulation 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 2018).
A2690T missense unknown APC A2690T does not lie within any known functional domains of the Apc protein (UniProt.org). A2690T has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
V1452I missense unknown APC V1452I does not lie within any known functional domains of the Apc protein (UniProt.org). V1452I 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, Mar 2018).
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 Apc truncation mutants downstream of N869 are inactivating (PMID: 18199528) thus, N869fs 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 down-regulation 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, Apr 2018).
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 characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
Q1469* nonsense loss of function - predicted APC Q1469* results in a premature truncation of the Apc protein at amino acid 1469 of 2843 within the Ctnnb1 binding and down-regulation domain of the Apc protein (PMID: 14672538). Q1469* has not been characterized, however Apc truncation mutants downstream of Q1469 are inactivating (PMID: 18199528) thus, Q1469* 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 an Apc truncation at I1572 (PMID: 10346819), S1356fs is predicted to reduce the ability of Apc to regulate beta-catenin.
C1578fs frameshift loss of function - predicted 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 not been characterized, however, due to the effects of an Apc truncation at I1572 (PMID: 10346819), C1578fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 Apc truncation mutants downstream of M1431 are inactivating (PMID: 18199528) thus, M1431fs is predicted to lead to a loss of Apc protein function.
N1118D missense unknown APC N1118D lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). N1118D has been identified in the scientific literature (PMID: 15122587), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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 Apc truncation mutants downstream of R1435 are inactivating (PMID: 18199528) thus, R1435fs 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, Mar 2018).
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 results in a loss of function reducing the ability of Apc to properly regulate beta-catenin (PMID: 10213492, PMID: 17189293).
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, Nov 2017).
S2497L missense unknown APC S2497L does not lie within any known functional domains of the Apc protein (UniPRot.org). S2497L has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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 an Apc truncation at I1572 (PMID: 10346819), I1557fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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, and due to the loss of multiple functional domains important for beta-catenin regulation, is predicted to result in a loss of Apc protein function (PMID: 28769798).
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 an Apc truncation at I1572 (PMID: 10346819), I1307fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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, Mar 2018).
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). Due to the loss of the Armadillo repeat and the beta-catenin binding and down-regulation regions (PMID: 14672538), Q424* 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). Due to the loss of the majority of functional domains (UniProt.org), R564* is predicted to lead to a loss of Apc protein function.
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). Due to the loss of all known functional domains (UniProt.org), R232* is predicted to lead to a loss of Apc protein function.
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 Apc truncation mutants downstream of T1485 are inactivating (PMID: 18199528) thus, A1485fs is predicted to lead to a loss of Apc protein function.
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). Due to the loss of the Armadillo repeat and the beta-catenin binding and down-regulation regions (PMID: 14672538), G471* 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 an Apc truncation at I1572 (PMID: 10346819), S1346* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), E1464fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), K1350* is predicted to reduce the ability of Apc to regulate beta-catenin.
P1420L missense unknown APC P1420L does not lie within any known functional domains of the Apc protein (UniProt.org). P1420L 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, Mar 2018).
G1120E missense unknown APC G1120E lies within the beta-catenin binding region of the Apc protein (PMID: 14672538). G1120E inhibits beta-catenin-mediated transcription at a level similar to wild-type Apc in a yeast assay, but other aspects of Apc function were not evaluated and therefore, its effect on Apc protein function is unknown (PMID: 14633595).
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). Due to the loss of multiple functional domains (PMID: 11900252), K716* is predicted to confer a loss of function to the Apc protein, likely reducing the ability of Apc to properly regulate beta-catenin (PMID: 7753829).
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). Due to the loss of all known functional domains (UniProt.org), R216* 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 2018).
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, Mar 2018).
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 an Apc truncation at I1572 (PMID: 10346819), A1470fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 Apc truncation mutations downstream of S1411 (PMID: 10346819, PMID: 18199528), S1411fs is predicted to result in a loss in 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 an Apc truncation at I1572 (PMID: 10346819), T1496fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 Apc truncation mutants downstream of T1556 are inactivating (PMID: 18199528) thus, T1556fs is predicted to lead to a loss of Apc protein function.
D1058G missense unknown APC D1058G lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). D1058G has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Jan 2018).
D1083E missense unknown APC D1083E lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). D1083E has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
P1613H missense unknown APC P1613H lies within the beta-catenin binding and down-regulation domain 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, Mar 2018).
V2112I missense unknown APC V2112I does not lie within any known functional domains of the Apc protein (UniProt.org). V2112I has not been characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2018).
I1307K missense unknown APC I1307K lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). I1307K has not been biochemically characterized, but has been associated with increased colorectal cancer risk (PMID: 9724771, PMID 24416237).
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 Apc truncation mutants downstream of P1372 are inactivating (PMID: 18199528) thus, P1372fs 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 within the Ctnnb1 binding and down-regulation domain of the Apc protein (PMID: 14672538). Q1378* has not been characterized, however Apc truncation mutants downstream of Q1378 are inactivating (PMID: 18199528) thus, Q1378* 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 Apc truncation mutants downstream of P1497 are inactivating (PMID: 18199528) thus, P1497fs 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 within the mutator cluster region of the Apc protein (PMID: 14672538). Q1303* has not been characterized, however Apc truncation mutants downstream of Q1303 are inactivating (PMID: 18199528) thus, Q1303* 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 Apc truncation mutants downstream of Q1429 are inactivating (PMID: 18199528) thus, Q1429fs is predicted to lead to a loss of Apc protein function.
Q1338* nonsense loss of function - predicted APC Q1338* results in a premature truncation of the Apc protein at amino acid 1338 of 2843 within the mutator cluster region of the Apc protein (PMID: 14672538). Q1338* has not been characterized, however Apc truncation mutants downstream of Q1338 are inactivating (PMID: 18199528) thus, Q1338* 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 within the mutator cluster region of the Apc protein (PMID: 14672538). Q1294* has not been characterized, however Apc truncation mutants downstream of Q1294 are inactivating (PMID: 18199528) thus, Q1294* 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 an Apc truncation at I1572 (PMID: 10346819), A1446fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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). Due to the loss of the beta-catenin binding and down-regulation region (PMID: 14672538), E658* 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 within the mutator cluster region (PMID: 14672538). Q1291* has not been characterized, however Apc truncation mutants downstream of Q1291 are inactivating (PMID: 18199528) thus, Q1291* 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 within the Ctnnb1 binding and down-regulation domain of the Apc protein (PMID: 14672538). Q1429* has not been characterized, however Apc truncation mutants downstream of Q1429 are inactivating (PMID: 18199528) thus, Q1429* is predicted to lead to a loss of Apc protein function.
T518A missense unknown APC T518A lies within the ARM 2 repeat domain 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 2018).
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 an Apc truncation at I1572 (PMID: 10346819), K1310* is predicted to reduce the ability of Apc to regulate beta-catenin.
L2401P missense unknown APC L2401P does not lie within any known functional domains of the Apc protein (UniProt.org). L2401P has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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 an Apc truncation at I1572 (PMID: 10346819), G1499* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), S1355fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), E1461* is predicted to reduce the ability of Apc to regulate beta-catenin.
G1312R missense unknown APC G1312R lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). G1312R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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 Apc truncation mutants downstream of P1361 are inactivating (PMID: 18199528) thus, P1361fs 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 Apc truncation mutants downstream of Q1303 are inactivating (PMID: 18199528) thus, Q1303fs 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 an Apc truncation at I1572 (PMID: 10346819), K1449fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 Apc truncation mutants downstream of P1319 are inactivating (PMID: 18199528) thus, P1319fs 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 an Apc truncation at I1572 (PMID: 10346819), C1387fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), E1306* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), E1513* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 Apc truncation mutants downstream of D1394 are inactivating (PMID: 18199528) thus, D1394fs is predicted to lead to a loss of Apc protein function.
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). Due to the loss of several known functional domains (UniProt.org, PMID: 17881494), R876* is predicted to lead to a loss of function.
D1422N missense unknown APC D1422N lies within the beta-catenin binding and down-regulation 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, Apr 2018).
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 an Apc truncation at I1572 (PMID: 10346819), F1491fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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, Apr 2018).
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 an Apc truncation at I1572 (PMID: 10346819), H1490fs is predicted to reduce the ability of Apc to regulate beta-catenin.
Q1096R missense unknown APC Q1096R lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). Q1096R has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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 Apc truncation mutants downstream of Y1376 are inactivating (PMID: 18199528) thus, Y1376fs is predicted to lead to a loss of Apc protein function.
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 Apc truncation mutants downstream of A928 are inactivating (PMID: 18199528) thus, A928fs 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 down-regulation mediated by ubiquitination (UniProt.org). E1317Q has been identified in the scientific literature (PMID: 14578138), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Apr 2018).
S1495I missense unknown APC S1495I lies within the beta-catenin binding and down-regulation domain of the Apc protein (PMID: 14672538). S1495I has been identified in sequencing studies (PMID: 21807601), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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 Apc truncation mutants downstream of P1443 are inactivating (PMID: 18199528) thus, P1443fs 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 not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
G1416* nonsense loss of function - predicted APC G1416* results in a premature truncation of the Apc protein at amino acid 1416 of 2843 within the mutator cluster region of the Apc protein (PMID: 14672538). G1416* has not been characterized, however Apc truncation mutants downstream of G1416 are inactivating (PMID: 18199528) thus, G1416* 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 an Apc truncation at I1572 (PMID: 10346819), S1364fs is predicted to reduce the ability of Apc to regulate beta-catenin.
A1296V missense unknown APC A1296V lies within a region of the Apc protein responsible for down-regulation 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, Apr 2018).
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, due to the effects of an Apc truncation at I1572 (PMID: 10346819), E1309fs is predicted to reduce the ability of Apc to regulate beta-catenin.
E1547K missense unknown APC E1547K does not lie within any known functional domains of the Apc protein (UniProt.org). E1547K has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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* is predicted to confer a loss of function to the Apc protein due to the loss of the highly charged and PDZ domains (UniProt.org).
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 an Apc truncation at I1572 (PMID: 10346819), C1274fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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). Due to the loss of most known functional domains (UniProt.org), S31fs is predicted to result in a loss of Apc 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 Apc truncation mutants downstream of K1555 are inactivating (PMID: 18199528) thus, K1555fs 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 an Apc truncation at I1572 (PMID: 10346819), A1325fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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, Mar 2018).
E1374K missense unknown APC E1374K lies within the beta-catenin binding and down-regulation region of the Apc protein (PMID: 14672538). E1374K 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, Mar 2018).
R640G missense loss of function - predicted APC R640G lies within the ARM 5 repeat region 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).
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 an Apc truncation at I1572 (PMID: 10346819), G1312fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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). Due to the loss of the WD repeat domain (UniProt.org), R302* is predicted to lead to a loss of Apc protein function.
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 an Apc truncation at I1572 (PMID: 10346819), D1297fs is predicted to reduce the ability of Apc to regulate beta-catenin.
R2714C missense unknown APC R2714C does not lie within any known functional domains of the Apc protein (UniProt.org). R2714C has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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 Apc truncation mutations downstream of E1408 (PMID: 18199528, PMID: 10346819), E1408* 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 lacks the ability to increase both Axin2 signaling and Tcf/Lef transcriptional activity in cultured cells (PMID: 15133491) and therefore, is predicted to have no effect on 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 Apc truncation mutants downstream of T1445 are inactivating (PMID: 18199528) thus, T1445fs 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 not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
G471E missense unknown APC G471E lies within the 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, Mar 2018).
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 a cell culture assay (PMID: 18199528) and therefore, is predicted to have no effect on 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 an Apc truncation at I1572 (PMID: 10346819), L1488Ffs*26 is predicted to reduce the ability of Apc to regulate beta-catenin.
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 an Apc truncation at I1572 (PMID: 10346819), A1351fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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* has not been characterized, however, due to the effects of an Apc truncation at I1572 (PMID: 10346819), E1309* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 Apc truncation mutants downstream of P1483 are inactivating (PMID: 18199528) thus, P1483fs 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 down-regulation 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, Jan 2018).
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 an Apc truncation at I1572 (PMID: 10346819), S1315fs is predicted to reduce the ability of Apc to regulate beta-catenin.
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, Apr 2018).
I1918V missense unknown APC I1918V lies within a region of the Apc protein responsible for down-regulation mediated by ubiquitination (UniProt.org). I1918V has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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, Mar 2018).
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). Due to the loss of all known functional domains (UniProt.org), R213* 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 an Apc truncation at I1572 (PMID: 10346819), E1345* is predicted to reduce the ability of Apc to regulate beta-catenin.
Q1096* nonsense loss of function - predicted APC Q1096* results in a premature truncation of the Apc protein at amino acid 1096 of 2843 within the Ctnnb1 binding domain (PMID: 14672538). Q1096* has not been characterized, however Apc truncation mutants downstream of Q1069 are inactivating (PMID: 18199528) thus, Q1069* is predicted to lead to a loss of Apc protein function.
E1494K missense unknown APC E1494K lies within the beta-catenin binding and down-regulation region of the Apc protein (PMID: 14672538). E1494K has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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 Apc truncation mutants downstream of P1373 are inactivating (PMID: 18199528) thus, P1373fs is predicted to lead to a loss of 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 an Apc truncation at I1572 (PMID: 10346819), G1312* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 by Apc in cell culture (PMID: 15133491) and therefore, is predicted to have no effect on Apc protein function.
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 an Apc truncation at I1572 (PMID: 10346819), K1308* is predicted to reduce the ability of Apc to regulate beta-catenin.
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 Apc truncation mutants downstream of Q886 are inactivating (PMID: 18199528) thus, Q886* 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* has been identified in sequencing studies (PMID: 27566247), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, Feb 2018).
R1158K missense unknown APC R1158K does not lie within any known functional domains of the Apc protein (UniProt.org). R1158K has not been characterized in the scientific literature and therefore, its effect on Apc protein function is unknown (PubMed, Mar 2018).
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). Due to the loss of the highly charged and PDZ-binding domains (UniProt.org), R1450* is predicted to lead to a loss of function.
Q1367* nonsense loss of function - predicted APC Q1367* results in a premature truncation of the Apc protein at amino acid 1367 of 2843 within the Ctnnb1 binding and down-regulation domain of the Apc protein (PMID: 14672538). Q1367* has not been characterized, however Apc truncation mutants downstream of Q1367 are inactivating (PMID: 18199528) thus, Q1367* 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 an Apc truncation at I1572 (PMID: 10346819), E1547* is predicted to reduce the ability of Apc to regulate beta-catenin.
E1286G missense unknown APC E1286G lies within a region of the Apc protein responsible for down-regulation 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, Apr 2018).
Q1429R missense unknown APC Q1429R does not lie within any known functional domains of the Apc protein (UniProt.org). 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, Mar 2018).
Molecular Profile Protein Effect Treatment Approaches
APC R2673G unknown
APC T1459fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1475fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC K1462fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A214V unknown
APC Y737* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC K1370* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC N1142Y unknown
APC N1300fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1508V unknown
APC Y1376* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC T683P unknown
APC D1003N unknown
APC R554* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC L684* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1422fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1397* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R1171H unknown
APC A1316fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1486fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC T1493fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC I1926M unknown
APC K1817fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1127* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R106C unknown
APC E190* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC P1440fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1480* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1322* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1446_Q1447insDIA unknown
APC Q1444* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1495fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC P1439fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1451* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R1835T unknown
APC R283* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC L1488* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC L665* APC R1450*
APC L665* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1305fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1425fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1294fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1022G unknown
APC wild-type no effect
APC N1819fs APC wild-type
APC wild-type CTNNB1 wild-type
APC L1488fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC C1410* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Y158H unknown
APC A1296fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC N1455Ifs*18 loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC T1487fs loss of function - predicted
APC E1306K unknown
APC A1471fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1297A unknown
APC L1564* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC C1387* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1378fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC W685R unknown
APC D1425A unknown
APC N741fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC V1472I unknown
APC E1494fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1295* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R230C unknown
APC R1314fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC H1375fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC G1339_S1340dup unknown
APC C207* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Y935* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1553T unknown
APC P1076L unknown
APC E1374* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC T1301fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC P1613S unknown
APC Q1067* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S590N unknown
APC R1114* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1554fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1484fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC inact mut PTEN inact mut
APC inact mut KRAS G12D
APC inact mut KRAS G12D PTEN inact mut
APC inact mut loss of function CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1406* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E763* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1552* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC G1499R unknown
APC R1348fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1318fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC L1129S unknown
APC E129Q unknown
APC R876Q unknown
APC S1278* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1197* APC S1278*
APC S1215* APC S1278*
APC C1410S unknown
APC S1355P unknown
APC G1357fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC G2303R unknown
APC Q1447* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1353* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1470T unknown
APC Q1131* APC Q1303*
APC Q1131* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1215* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1422H unknown
APC E853* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E853* APC T1556fs
APC E853* APC K1555*
APC V1377fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC W553* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1347T unknown
APC E1379* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1402fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC C1289fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1366V unknown
APC T1438fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1306fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC mutant unknown
APC mut BRAF mut PIK3CA mut SMAD4 mut TP53 mut
APC mutant KRAS mutant KDR R961W
APC I1164fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1464* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S2685G unknown
APC K1555* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC F1354fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC I606fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC P1453fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1305G unknown
APC S1436fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1315* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC N1026S loss of function CTNNB1 Inhibitor Tankyrase Inhibitor
APC V1804D unknown
APC E1554* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC I1311fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1465fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1197* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R499* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1400* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R1435* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC L508F unknown
APC V1822D unknown
APC A1492fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC P1432H unknown
APC P1458fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R405* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1356* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC L1489fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S811* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC N1455fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1317* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC K1310fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC V1352A unknown
APC A2690T unknown
APC V1452I unknown
APC N869fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC T1301S unknown
APC G2502S unknown
APC Q1469* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1356fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC C1578fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC M1431fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC N1118D unknown
APC R1435fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1566N unknown
APC E1309Afs*3 loss of function CTNNB1 Inhibitor Tankyrase Inhibitor
APC N1819fs unknown
APC S2497L unknown
APC I1557fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R805* loss of function - predicted
APC I1307fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC L2253I unknown
APC Q424* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R564* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R232* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1485fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC G471* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1346* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1464fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC K1350* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC P1420L unknown
APC G1120E unknown
APC K716* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R216* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S940L unknown
APC I880T unknown
APC A1470fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1411fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC T1496fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC T1556fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1058G unknown
APC D1083E unknown
APC P1613H unknown
APC V2112I unknown
APC I1307K unknown
APC P1372fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1378* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC P1497fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1303* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1429fs BRAF N581S ERBB2 L755S
APC Q1429fs loss of function - predicted
APC Q1338* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1294* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1446fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E658* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1291* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1429* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC T518A unknown
APC K1310* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC L2401P unknown
APC G1499* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1355fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1461* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC G1312R unknown
APC P1361fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1303fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC K1449fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC P1319fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC C1387fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1306* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1513* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1394fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R876* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1422N unknown
APC F1491fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1358E unknown
APC H1490fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1096R unknown
APC Y1376fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A928fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1317Q unknown
APC S1495I unknown
APC P1443fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R374W unknown
APC G1416* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S1364fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1296V unknown
APC E1309fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1547K unknown
APC E1544* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC C1274fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S31fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC K1555fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1325fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R2525C unknown
APC E1374K unknown
APC R640G loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC G1312fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R302* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC D1297fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R2714C unknown
APC E1408* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC N813S no effect - predicted
APC T1445fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC R805Q unknown
APC G471E unknown
APC K1454E no effect - predicted
APC L1488Ffs*26 loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1351fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1309* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC P1483fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1284K unknown
APC S1315fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC A1475V unknown
APC I1918V unknown
APC P1453S unknown
APC R213* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1345* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1096* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1494K unknown
APC P1373fs loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC G1312* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC S130G no effect - predicted
APC K1308* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q886* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1577* unknown CTNNB1 Inhibitor Tankyrase Inhibitor
APC R1158K unknown
APC R1450* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC Q1367* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1547* loss of function - predicted CTNNB1 Inhibitor Tankyrase Inhibitor
APC E1286G unknown
APC Q1429R unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
APC L1488* colorectal cancer sensitive TASIN-1 Preclinical - Cell culture Actionable In a preclinical study, TASIN-1 inhibited survival of colorectal cancer cells harboring APC L1488* in culture (PMID: 27798265). 27798265
APC L665* APC R1450* colorectal cancer resistant G007-LK Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC L665* and APC R1450* demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with G007-LK in culture (PMID: 28179481). 28179481
APC L665* APC R1450* colorectal cancer sensitive XAV939 Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC L665* and APC R1450* demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with XAV939 in culture (PMID: 28179481). 28179481
APC L665* APC R1450* colorectal cancer sensitive IWR-1 Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC L665* and APC R1450* demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with IWR-1 in culture (PMID: 28179481). 28179481
APC wild-type colorectal cancer resistant TASIN-1 Preclinical - Cell line xenograft Actionable In a preclinical study, TASIN-1 did not inhibit survival of APC wild-type colorectal cancer cells in culture or in cell line xenograft models (PMID: 27798265). 27798265
APC N1819fs APC wild-type colorectal cancer resistant XAV939 Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC N1819fs (reported as N1819fs*7) and a wild-type copy of APC demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with XAV939 in culture (PMID: 28179481). 28179481
APC N1819fs APC wild-type colorectal cancer resistant G007-LK Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC N1819fs (reported as N1819fs*7) and a wild-type copy of APC demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with G007-LK in culture (PMID: 28179481). 28179481
APC wild-type CTNNB1 wild-type colon cancer predicted - sensitive Vantictumab Preclinical - Pdx Actionable In a preclinical study, Vantictumab (OMP-18R5) inhibited tumor growth in patient-derived xenograft models of colon cancer with wild-type CTNNB1 (beta-catenin) and APC (PMID: 22753465). 22753465
APC inact mut PTEN inact mut colorectal cancer sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 inhibited PI3K/mTOR signaling in tumors and increased survival in transgenic animal models of colorectal cancer driven by APC and PTEN inactivation (PMID: 26206338). 26206338
APC inact mut PTEN inact mut colorectal cancer no benefit Binimetinib Preclinical Actionable In a preclinical study, Binimetinib (MEK162) reduced proliferation in tumors acutely but did not improve survival in transgenic animal models of colorectal cancer driven by APC and PTEN inactivation (PMID: 26206338). 26206338
APC inact mut PTEN inact mut colorectal cancer no benefit BEZ235 + Binimetinib Preclinical Actionable In a preclinical study, combination of BEZ235 and Binimetinib (MEK162) did not improve survival compared to single agent in transgenic animal models of colorectal cancer driven by APC and PTEN inactivation (PMID: 26206338). 26206338
APC inact mut KRAS G12D colorectal cancer sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 inhibited PI3K/mTOR signaling in tumors and increased survival in transgenic animal models of colorectal cancer driven by APC inactivation and KRAS G12D (PMID: 26206338). 26206338
APC inact mut KRAS G12D colorectal cancer sensitive BEZ235 + Binimetinib Preclinical Actionable In a preclinical study, combination of BEZ235 and Binimetinib (MEK162) resulted in reduced tumor growth and additive effect on survival compared to single agent in transgenic animal models of colorectal cancer driven by APC inactivation and KRAS G12D (PMID: 26206338). 26206338
APC inact mut KRAS G12D colorectal cancer sensitive Binimetinib Preclinical Actionable In a preclinical study, Binimetinib (MEK162) increased apoptosis in tumors and improved survival in transgenic animal models of colorectal cancer driven by APC inactivation and KRAS G12D (PMID: 26206338). 26206338
APC inact mut KRAS G12D PTEN inact mut colorectal cancer no benefit Binimetinib Preclinical Actionable In a preclinical study, Binimetinib (MEK162) increased both apoptosis and proliferation in tumors, resulted in no improvement in survival in transgenic animal models of colorectal cancer driven by APC and PTEN inactivation and KRAS G12D (PMID: 26206338). 26206338
APC inact mut KRAS G12D PTEN inact mut colorectal cancer sensitive BEZ235 Preclinical Actionable In a preclinical study, BEZ235 inhibited mTOR signaling in tumors and increased survival in transgenic animal models of colorectal cancer driven by APC and PTEN inactivation, and KRAS G12D (PMID: 26206338). 26206338
APC inact mut KRAS G12D PTEN inact mut colorectal cancer sensitive BEZ235 + Binimetinib Preclinical Actionable In a preclinical study, combination of BEZ235 and Binimetinib (MEK162) increased survival compared to single agent in transgenic animal models of colorectal cancer driven by APC and PTEN inactivation and KRAS G12D (PMID: 26206338). 26206338
APC inact mut colorectal cancer sensitive Erlotinib + Ibuprofen Preclinical - Cell line xenograft Actionable In a preclinical study, ibuprofen, in combination with Tarceva (erlotinib), demonstrated efficacy in reducing tumor number and volume in APC inactivating mutant mice and in cell line xenograft models of colorectal cancer (PMID: 17909047). 17909047
APC inact mut colorectal cancer sensitive TASIN-1 Preclinical - Cell line xenograft Actionable In a preclinical study, TASIN-1 efficiently inhibited survival of colorectal cancer cell lines harboring APC truncation mutations in culture and in cell line xenograft models (PMID: 27798265). 27798265
APC inact mut colon cancer sensitive JW55 Preclinical Actionable In a preclinical study, JW55 inhibited proliferation of colorectal cancer cells with an APC truncation mutation in culture and decreased tumor development in a mouse model expressing a conditional APC truncation mutation (PMID: 22440753). 22440753
APC inact mut colorectal cancer sensitive XAV939 Preclinical Actionable In a preclinical study, XAV939 inhibited growth of colorectal cancer cells harboring APC inactivating mutations in culture (PMID: 19759537). 19759537
APC inact mut colorectal cancer sensitive Niclosamide Preclinical Actionable In a preclinical study, Niclosamide inhibited proliferation of colorectal cancer cells harboring APC mutations in culture (PMID: 21531761). 21531761
APC inact mut colon cancer sensitive iCRT-14 Preclinical - Cell line xenograft Actionable In a preclinical study, iCRT-14 induced cell-cycle arrest and inhibited proliferation of colon cancer cells harboring APC inactivating mutations in culture and decreased initial tumor growth in APC-mutant colon cancer cell line xenograft models (PMID: 21393571). 21393571
APC inact mut colon carcinoma sensitive FH535 Preclinical Actionable In a preclinical study, FH535 inhibited beta-catenin/TCF-dependent transactivation and demonstrated toxicity in colon carcinoma cells harboring an APC mutation in culture (PMID: 18347139). 18347139
APC inact mut colon cancer sensitive StAx-35 Preclinical Actionable In a preclinical study, StAx-35 inhibited proliferation of colon cancer cell lines carrying APC deletions in culture (PMID: 23071338). 23071338
APC inact mut colorectal cancer sensitive Dasatinib Preclinical Actionable In a preclinical study, the combination of Sprycel (dasatinib) and curcumin inhibited tumor growth in a mouse model of colorectal cancer harboring an Apc mutation (PMID: 20473900). 20473900
APC inact mut colorectal cancer sensitive PKF118-310 Preclinical Actionable In a preclinical study, PKF118-310 inhibited proliferation of colorectal cancer cell line harboring an APC inactivating mutation in culture (PMID: 14749129). 14749129
APC inact mut colorectal cancer sensitive CCT031374 Preclinical Actionable In a preclinical study, CCT031374 inhibited Wnt pathway activation and growth of colorectal cancer cell lines harboring APC inactivating mutations in culture (PMID: 20610623). 20610623
APC inact mut colon cancer sensitive MF tricyclic Preclinical Actionable In a preclinical study, mouse models of colon cancer carrying an APC 716del mutation had reduced polyp formation after treatment with MF tricyclic (PMID: 23843721). 23843721
APC inact mut colon cancer sensitive CGP049090 Preclinical Actionable In a preclinical study, CGP049090 inhibited proliferation of a colorectal cancer cell line harboring an APC inactivating mutation in culture (PMID: 14749129). 14749129
APC inact mut colorectal cancer sensitive NC043 Preclinical - Cell line xenograft Actionable In a preclinical study, NC043 inhibited Wnt pathway activation and growth of colorectal cancer cell lines harboring APC truncation mutations in culture and in cell line xenograft models (PMID: 21321609). 21321609
APC inact mut colorectal cancer sensitive Celecoxib + Erlotinib Preclinical - Cell line xenograft Actionable In a preclinical study, Celebra (celecoxib), in combination with Tarceva (erlotinib), demonstrated efficacy in reducing tumor number and volume in APC inactivating mutant mice and in human colorectal cancer cell line xenograft models (PMID: 17909047). 17909047
APC inact mut colon cancer sensitive PKF115-584 Preclinical Actionable In a preclinical study, PKF115-584 inhibited proliferation of colorectal cancer cell line harboring an APC inactivating mutation in culture (PMID: 14749129). 14749129
APC inact mut colon cancer sensitive Vandetanib Preclinical Actionable In a preclinical study, Caprelsa (vandetanib) reduced the number of dextran sodium sulfate-induced tumors in an APC-deficient mouse model for colon cancer (PMID: 20811697). 20811697
APC inact mut colorectal cancer sensitive Celecoxib Preclinical Actionable In a preclinical study, APC inactivating mutant mouse models of colon cancer had reduced polyp formation after treatment with Celebra (celecoxib) (PMID: 17909047). 17909047
APC inact mut colon cancer sensitive ICG-001 Preclinical Actionable In a preclinical study, ICG-001 decreased cell proliferation in colon cancer cell lines and in mouse models carrying APC inactivating mutations (PMID: 15314234). 15314234
APC inact mut colon cancer sensitive iCRT-5 Preclinical Actionable In a preclinical study, iCRT-5 induced cell-cycle arrest and inhibited proliferation of colon cancer cells harboring APC inactivating mutations in culture (PMID: 21393571). 21393571
APC inact mut colorectal cancer sensitive Sulindac Preclinical Actionable In a preclinical study, colorectal cancer mouse models carrying APC inactivating mutations had reduced intestinal tumor burden after treatment with Clinoril (sulindac) (PMID: 19755659). 19755659
APC inact mut colorectal cancer sensitive Pyrvinium Preclinical Actionable In a preclinical study, Pyrvinium inhibited Wnt signaling and decreased viability of colon cancer cells harboring APC mutations in culture (PMID: 20890287). 20890287
APC inact mut colon cancer sensitive G007-LK Preclinical - Cell line xenograft Actionable In a preclinical study, G007-LK inhibited growth of APC-mutant colorectal cancer cell lines in culture and in xenograft models (PMID: 23539443). 23539443
APC inact mut colorectal cancer sensitive CCT070535 Preclinical Actionable In a preclinical study, CCT070535 inhibited Wnt pathway activation and growth of colorectal cancer cell lines harboring APC inactivating mutations in culture (PMID: 20610623). 20610623
APC inact mut colon cancer sensitive Sirolimus Preclinical Actionable In preclinical trials, Sirolimus (rapamycin) was shown effective in reducing tumors in mouse models of familial adenomatous polyposis and colon cancer with APC deficient tumors (PMID: 18768809, PMID: 20080688). 18768809 20080688
APC inact mut colorectal cancer sensitive CCT036477 Preclinical Actionable In a preclinical study, CCT036477 inhibited Wnt pathway activation and growth of colorectal cancer cell lines harboring APC inactivating mutations in culture (PMID: 20610623). 20610623
APC inact mut colon cancer sensitive iCRT-3 Preclinical Actionable In a preclinical study, iCRT-3 induced cell-cycle arrest and inhibited proliferation of colon cancer cells harboring APC inactivating mutations in culture (PMID: 21393571). 21393571
APC inact mut colon cancer sensitive Vinorelbine Preclinical Actionable In preclinical studies, cells deficient in Apc protein had increased sensitivity to Navelbine (vinorelbine) compared to wild-type cells, and Navelbine (vinorelbine) treament decreased adenoma size in an Apc-deficient mouse model (PMID: 22399804). 22399804
APC S1197* APC S1278* colorectal cancer sensitive G007-LK Preclinical - Cell culture Actionable In a preclinical study, treatment with G007-LK decreased active beta-catenin levels and Tcf/LEF activity, and reduced growth of a colorectal cancer cell line harboring APC S1197* and APC S1278* in culture (PMID: 28179481). 28179481
APC S1197* APC S1278* colorectal cancer sensitive IWR-1 Preclinical - Cell culture Actionable In a preclinical study, treatment with IWR-1 decreased active beta-catenin levels and Tcf/LEF activity, and reduced growth of a colorectal cancer cell line harboring APC S1197* and APC S1278* in culture (PMID: 28179481). 28179481
APC S1197* APC S1278* colorectal cancer sensitive XAV939 Preclinical - Cell culture Actionable In a preclinical study, XAV939 inhibited growth of a colorectal cancer cell line harboring APC S1197* and APC S1278* in culture (PMID: 28179481). 28179481
APC Q1131* APC Q1303* colorectal cancer sensitive TASIN-1 Preclinical - Cell culture Actionable In a preclinical study, TASIN-1 inhibited survival of colorectal cancer cells harboring APC Q1131* and Q1303* in culture (PMID: 27798265). 27798265
APC E853* APC T1556fs colorectal cancer resistant G007-LK Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC E853* and APC T1556fs (reported as APC T1556fs*3) demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with G007-LK in culture (PMID: 28179481). 28179481
APC E853* APC T1556fs colorectal cancer resistant IWR-1 Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC E853* and APC T1556fs (reported as APC T1556fs*3) demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with IWR-1 in culture (PMID: 28179481). 28179481
APC E853* APC T1556fs colorectal cancer resistant XAV939 Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC E853* and APC T1556fs (reported as APC T1556fs*3) demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with XAV939 in culture (PMID: 28179481). 28179481
APC E853* APC K1555* colorectal cancer sensitive TASIN-1 Preclinical - Cell line xenograft Actionable In a preclinical study, TASIN-1 efficiently inhibited survival of colorectal cancer cells harboring APC E853* and K1555* in culture and in cell line xenograft models (PMID: 27798265). 27798265
APC W553* colorectal cancer sensitive G007-LK Preclinical - Cell culture Actionable In a preclinical study, G007-LK inhibited growth of a patient-derived colorectal cancer cell line harboring APC W553* in culture (PMID: 28179481). 28179481
APC W553* colorectal cancer sensitive IWR-1 Preclinical - Cell culture Actionable In a preclinical study, IWR-1 inhibited growth of a patient-derived colorectal cancer cell line harboring APC W553* in culture (PMID: 28179481). 28179481
APC mutant colorectal cancer sensitive JW74 Preclinical Actionable In a preclinical study, JW74 reduced tumor formation and growth in a mouse model of colorectal cancer harboring an APC mutation (PMID: 21199802). 21199802
APC mutant colorectal cancer predicted - sensitive K-756 Preclinical Actionable In a preclinical study, K-756 inhibited Wnt signaling and reduced growth of 2/3 tested APC-mutant colorectal cancer cell lines in culture (PMID: 27196752). 27196752
APC mutant medulloblastoma not applicable N/A Guideline Prognostic WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org). detail...
APC mutant colorectal cancer no benefit G-631 Preclinical - Cell line xenograft Actionable In a preclinical study, G-631 inhibited Wnt pathway signaling in colorectal cancer cell line xenograft models harboring an APC mutation, but demonstrated little anti-tumor activity and led to intestinal toxicity (PMID: 26692561). 26692561
APC mutant colon adenoma predicted - sensitive MYB vaccine Preclinical Actionable In a preclinical study, TetMYB treatment resulted in improved median survival compared to control (356 vs 183 days) in APC-driven mouse models of colon adenoma (Gastroenterology, Volume 154, Issue 6, Supplement 1, May 2018, Pages S-1269). detail...
APC mut BRAF mut PIK3CA mut SMAD4 mut TP53 mut colorectal cancer sensitive Sapanisertib Preclinical Actionable In a preclinical study, a rapamycin-resistant colorectal cancer cell line harboring mutations in APC, BRAF, PIK3CA, SMAD4 and TP53 was sensitive to Sapanisertib (MLN0128) resulting in inhibition of MTORC1 signaling (PMID: 25261369). 25261369
APC mutant KRAS mutant KDR R961W colorectal cancer sensitive Regorafenib Clinical Study Actionable In a clinical case study, Stivarga (regorafenib) treatment resulted in durable partial response in a colorectal cancer patient harboring KDR R961W and mutations in APC and KRAS (PMID: 27004155). 27004155
APC I1164fs colorectal cancer sensitive G007-LK Preclinical - Patient cell culture Actionable In a preclinical study, G007-LK inhibited growth of a patient-derived colorectal cancer cell line harboring APC I1164fs in culture (PMID: 28179481). 28179481
APC I1164fs colorectal cancer sensitive IWR-1 Preclinical - Cell culture Actionable In a preclinical study, IWR-1 inhibited growth of a patient-derived colorectal cancer cell line harboring APC I1164fs in culture (PMID: 28179481). 28179481
APC S811* colorectal cancer sensitive IWR-1 Preclinical - Cell culture Actionable In a preclinical study, treatment with IWR-1 decreased active beta-catenin levels and reduced growth of a colorectal cancer cell line harboring APC S811* in culture (PMID: 28179481). 28179481
APC S811* colorectal cancer sensitive G007-LK Preclinical - Cell culture Actionable In a preclinical study, treatment with G007-LK decreased active beta-catenin levels and Tcf/LEF activity, and reduced growth of a colorectal cancer cell line harboring APC S811* in culture (PMID: 28179481). 28179481
APC S811* colorectal cancer sensitive XAV939 Preclinical - Cell culture Actionable In a preclinical study, XAV939 inhibited growth of a colorectal cancer cell line harboring APC S811* in culture (PMID: 28179481). 28179481
APC N1819fs colorectal cancer resistant IWR-1 Preclinical - Cell culture Actionable In a preclinical study, a colorectal cancer cell line harboring APC N1819fs (reported as N1819fs*7) and a wild-type copy of APC demonstrated low levels of Tcf/LEF activity, and was resistant to treatment with IWR-1 in culture (PMID: 28179481). 28179481
APC R216* colorectal cancer sensitive G007-LK Preclinical - Cell culture Actionable In a preclinical study, a patient-derived colorectal cancer cell line harboring APC R216* demonstrated sensitivity to G007-LK in culture (PMID: 28179481). 28179481
APC R216* colorectal cancer sensitive IWR-1 Preclinical - Cell culture Actionable In a preclinical study, IWR-1 inhibited growth of a patient-derived colorectal cancer cell line harboring APC R216* in culture (PMID: 28179481). 28179481
APC Q1429fs BRAF N581S ERBB2 L755S rectum adenocarcinoma no benefit Fluorouracil + Leucovorin + Trastuzumab Clinical Study Actionable In a clinical case study, a rectal adenocarcinoma patient harboring APC Q1429fs, BRAF N581S, and ERBB2 L755S did not respond to Herceptin (trastuzumab) treatment in combination with Fluorouracil and Wellcovorin (leucovorin) (PMID: 27626067). 27626067
APC Q1338* colorectal cancer sensitive JW74 Preclinical Actionable In a preclinical study, JW74 inhibited Wnt signaling and decreased growth of colorectal cancer cells harboring APC Q1338* in culture and in xenograft models (PMID: 21199802). 21199802
APC Q1338* colorectal cancer sensitive TASIN-1 Preclinical - Cell culture Actionable In a preclinical study, TASIN-1 inhibited survival of colorectal cancer cell lines harboring APC Q1338* in culture (PMID: 27798265). 27798265
APC Q1338* colorectal cancer sensitive JW67 Preclinical Actionable In a preclinical study, JW67 inhibited Wnt signaling and decreased proliferation of colorectal cancer cells harboring APC Q1338* in culture (PMID: 21199802). 21199802
APC G1416* colorectal cancer sensitive TASIN-1 Preclinical - Cell culture Actionable In a preclinical study, TASIN-1 inhibited survival of colorectal cancer cell lines harboring APC G11416* in culture (PMID: 27798265). 27798265
APC E1309* colorectal cancer sensitive TASIN-1 Preclinical - Cell line xenograft Actionable In a preclinical study, TASIN-1 efficiently inhibited survival of colorectal cancer cells harboring APC E1309* in culture and in cell line xenograft models (PMID: 27798265). 27798265