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Gene | APC |
Variant | P1443Lfs*30 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC P1443Lfs*30 indicates a shift in the reading frame starting at amino acid 1443 and terminating 30 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). P1443Lfs*30 has not been characterized, however, due to the effects of other truncation mutations downstream of P1443 (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 P1443fs APC P1443Lfs*30 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839922delC |
cDNA | c.4328delC |
Protein | p.P1443Lfs*30 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |