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Gene | ALK |
Variant | P40L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK P40L lies within the extracellular domain of the Alk protein (UniProt.org). P40L has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK P40L |
Transcript | NM_004304.5 |
gDNA | chr2:g.29920541G>A |
cDNA | c.119C>T |
Protein | p.P40L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29920541G>A | c.119C>T | p.P40L | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29920541G>A | c.119C>T | p.P40L | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29920541G>A | c.119C>T | p.P40L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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