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Gene | APC |
Variant | Q1291* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC Q1291* results in a premature truncation of the Apc protein at amino acid 1291 of 2843 (UniProt.org). Q1291* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1291 (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 Q1291* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112839465C>T |
cDNA | c.3871C>T |
Protein | p.Q1291* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407450.1 | chr5:g.112839465C>T | c.3871C>T | p.Q1291* | RefSeq | GRCh38/hg38 |
NM_001127510 | chr5:g.112839465C>T | c.3871C>T | p.Q1291* | RefSeq | GRCh38/hg38 |
NM_000038 | chr5:g.112839465C>T | c.3871C>T | p.Q1291* | RefSeq | GRCh38/hg38 |
NM_001354895.1 | chr5:g.112839465C>T | c.3871C>T | p.Q1291* | RefSeq | GRCh38/hg38 |
NM_001354895.2 | chr5:g.112839465C>T | c.3871C>T | p.Q1291* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112839465C>T | c.3871C>T | p.Q1291* | RefSeq | GRCh38/hg38 |
NM_000038.5 | chr5:g.112839465C>T | c.3871C>T | p.Q1291* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112839465C>T | c.3871C>T | p.Q1291* | RefSeq | GRCh38/hg38 |
NM_001127510.2 | chr5:g.112839465C>T | c.3871C>T | p.Q1291* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC Q1291* | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |