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Gene | APC |
Variant | T621Lfs*9 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC T621Lfs*9 indicates a shift in the reading frame starting at amino acid 621 and terminating 9 residues downstream causing a premature truncation of the 2843 amino acid Apc protein (UniProt.org). T621Lfs*9 has not been characterized, however, due to the effects of other truncation mutations downstream of T621 (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 T621Lfs*9 |
Transcript | NM_000038.6 |
gDNA | chr5:g.112835068delA |
cDNA | c.1861delA |
Protein | p.T621Lfs*9 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000038.6 | chr5:g.112835068delA | c.1861delA | p.T621Lfs*9 | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112835068delA | c.1861delA | p.T621Lfs*9 | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112835068delA | c.1861delA | p.T621Lfs*9 | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112835068delA | c.1861delA | p.T621Lfs*9 | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112835068delA | c.1861delA | p.T621Lfs*9 | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112835064delT | c.1857delT | p.T621Lfs*9 | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112835068delA | c.1861delA | p.T621Lfs*9 | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112835068delA | c.1861delA | p.T621Lfs*9 | RefSeq | GRCh38/hg38 |
NM_001407451.1 | chr5:g.112835088_112835089insCTCCCCCCAA | c.1860_1861insCTCCCCCCAA | p.T621Lfs*9 | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112835064delT | c.1857delT | p.T621Lfs*9 | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC T621Lfs*9 | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |