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Gene | ALK |
Variant | R401* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ALK R401* results in a premature truncation of the Alk protein at amino acid 401 of 1620 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), R401* is predicted to lead to a loss of Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK inact mut ALK R401* |
Transcript | NM_004304.5 |
gDNA | chr2:g.29383813G>A |
cDNA | c.1201C>T |
Protein | p.R401* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29383813G>A | c.1201C>T | p.R401* | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29383813G>A | c.1201C>T | p.R401* | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29383813G>A | c.1201C>T | p.R401* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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