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Gene | APC |
Variant | A1347T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | APC A1347T lies within the beta-catenin binding and downregulation region of the Apc protein (PMID: 14672538). A1347T has been identified in sequencing studies (PMID: 22622578, PMID: 25343854), but has not been biochemically characterized and therefore, its effect on Apc protein function is unknown (PubMed, May 2025). |
Associated Drug Resistance | |
Category Variants Paths |
APC mutant APC A1347T |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839633G>A |
cDNA | c.4039G>A |
Protein | p.A1347T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |