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Gene | ALK |
Variant | L1152V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK L1152V lies within the protein kinase domain of the Alk protein (UniProt.org). L1152V is associated with decreased ALK inhibitor sensitivity in the context of an ALK fusion in culture (PMID: 22034911), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK L1152V |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222405G>C |
cDNA | c.3454C>G |
Protein | p.L1152V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29222405G>C | c.3454C>G | p.L1152V | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222405G>C | c.3454C>G | p.L1152V | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29222405G>C | c.3454C>G | p.L1152V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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