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Gene | APC |
Variant | A1305fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC A1305fs results in a change in the amino acid sequence of the Apc protein beginning at aa 1305 of 2843, likely resulting in premature truncation of the functional protein (UniProt.org). A1305fs has not been characterized, however, due to the effects of other truncation mutations downstream of A1305 (PMID: 18199528, PMID: 10346819), is predicted to lead to a loss of Apc protein function. |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC inact mut APC A1305fs |
Transcript | NM_000038.6 |
gDNA | chr5:g.(112839506_112839507) |
cDNA | c.(3913_3912) |
Protein | p.A1305fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.2 | chr5:g.(112839506_112839507) | c.(3913_3912) | p.A1305fs | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.(112839506_112839507) | c.(3913_3912) | p.A1305fs | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.(112839506_112839507) | c.(3913_3912) | p.A1305fs | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.(112839506_112839507) | c.(3913_3912) | p.A1305fs | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.(112839506_112839507) | c.(3913_3912) | p.A1305fs | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.(112839506_112839507) | c.(3913_3912) | p.A1305fs | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.(112839506_112839507) | c.(3913_3912) | p.A1305fs | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.(112839506_112839507) | c.(3913_3912) | p.A1305fs | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.(112839506_112839507) | c.(3913_3912) | p.A1305fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC A1305fs | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |