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Gene | APC |
Variant | M1431fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC M1431fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1431 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). M1431fs has not been characterized, however, due to the effects of other truncation mutations downstream of M1431 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC M1431fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112839884_112839885) |
cDNA | c.(4291_4290) |
Protein | p.M1431fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.5 | chr5:g.(112839884_112839885) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.(112839884_112839885) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_001354896.2 | chr5:g.(112839830_112839831) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112839884_112839885) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112839884_112839885) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_001407448.1 | chr5:g.(112839830_112839831) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_001354896.1 | chr5:g.(112839830_112839831) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112839884_112839885) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_001407447.1 | chr5:g.(112839830_112839831) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112839884_112839885) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112839884_112839885) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112839884_112839885) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112839884_112839885) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
NM_001407449.1 | chr5:g.(112839830_112839831) | c.(4291_4290) | p.M1431fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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