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Gene | APC |
Variant | L1489* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | APC L1489* results in a premature truncation of the Apc protein at amino acid 1489 of 2843 (UniProt.org). L1489* has not been characterized, however, due to the effects of other truncation mutations downstream of L1489 (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 L1489* |
Transcript | NM_000038.6 |
gDNA | chr5:g.112840060T>A |
cDNA | c.4466T>A |
Protein | p.L1489* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354895.2 | chr5:g.112840060T>A | c.4466T>A | p.L1489* | RefSeq | GRCh38/hg38 |
NM_001407450.1 | chr5:g.112840060T>A | c.4466T>A | p.L1489* | RefSeq | GRCh38/hg38 |
NM_000038.6 | chr5:g.112840060T>A | c.4466T>A | p.L1489* | RefSeq | GRCh38/hg38 |
NM_001407467.1 | chr5:g.112840446_112840447delCTinsTA | c.4465_4466delCTinsTA | p.L1489* | RefSeq | GRCh38/hg38 |
NM_001407469.1 | chr5:g.112840446_112840447delCTinsTA | c.4465_4466delCTinsTA | p.L1489* | RefSeq | GRCh38/hg38 |
NM_001127510.3 | chr5:g.112840060T>A | c.4466T>A | p.L1489* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
APC L1489* | loss of function - predicted | CTNNB1 Inhibitor Tankyrase Inhibitor |