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Gene | ALK |
Variant | L1198P |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | ALK L1198P lies within the protein kinase domain of the Alk protein (UniProt.org). L1198P results in increased phosphorylation of Alk and has been demonstrated to confer resistance to Alk inhibitors in the context of EML4-ALK in culture (PMID: 21948233), and therefore, is predicted to lead to a gain of Alk protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK act mut ALK L1198P ALK mutant ALK L1198X ALK L1198P |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220758A>G |
cDNA | c.3593T>C |
Protein | p.L1198P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29220758A>G | c.3593T>C | p.L1198P | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29220758A>G | c.3593T>C | p.L1198P | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220758A>G | c.3593T>C | p.L1198P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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