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Gene | ALK |
Variant | W501* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ALK W501* results in a premature truncation of the Alk protein at amino acid 501 of 1620 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W501* is predicted to lead to a loss of Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK inact mut ALK W501* |
Transcript | NM_004304.5 |
gDNA | chr2:g.29320795C>T |
cDNA | c.1502G>A |
Protein | p.W501* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29320795C>T | c.1502G>A | p.W501* | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29320795C>T | c.1502G>A | p.W501* | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29320795C>T | c.1502G>A | p.W501* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK W501* | loss of function - predicted |