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Gene | ALK |
Variant | C928Lfs*20 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ALK C928Lfs*20 indicates a shift in the reading frame starting at amino acid 928 and terminating 20 residues downstream causing a premature truncation of the 1620 amino acid Alk protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), C928Lfs*20 is predicted to lead to a loss of Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK inact mut ALK C928Lfs*20 |
Transcript | NM_004304.5 |
gDNA | chr2:g.29228917dupA |
cDNA | c.2782dupT |
Protein | p.C928Lfs*20 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29228917dupA | c.2782dupT | p.C928Lfs*20 | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29228917dupA | c.2782dupT | p.C928Lfs*20 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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