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Gene | APC |
Variant | Q1406* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC Q1406* results in a premature truncation of the Apc protein at amino acid 1406 of 2843 (UniProt.org). Q1406* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1406 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC Q1406* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839810C>T |
cDNA | c.4216C>T |
Protein | p.Q1406* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407450.1 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001354900.2 | chr5:g.112839933C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001407446.1 | chr5:g.112839726C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001354900.1 | chr5:g.112839933C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839810C>T | c.4216C>T | p.Q1406* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
APC Q1406* | colorectal cancer | predicted - sensitive | XAV939 | Preclinical | Actionable | In a preclinical study, XAV939 treatment inhibited growth of mouse intestinal organoids expressing APC Q1045* (corresponding to Q1046* in human) in culture (PMID: 31337618). | 31337618 |
APC Q1406* | colorectal cancer | predicted - sensitive | G007-LK | Preclinical | Actionable | In a preclinical study, G007-LK treatment altered gene expression pattern and inhibited growth of mouse intestinal organoids expressing APC Q1045* (corresponding to Q1046* in human) in culture (PMID: 31337618). | 31337618 |
APC Q1406* | colorectal cancer | predicted - sensitive | NVP-TNKS656 | Preclinical | Actionable | In a preclinical study, NVP-TNKS656 treatment inhibited growth of mouse intestinal organoids expressing APC Q1045* (corresponding to Q1046* in human) in culture (PMID: 31337618). | 31337618 |