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Gene | ALK |
Variant | I1170V |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | ALK I1170V lies within the protein kinase domain of the Alk protein (UniProt.org). I1170V is not transforming in cultured cells but is activating in an in vitro assay (PMID: 33674381), and therefore, is predicted to lead to a gain of Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK I1170V |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222351T>C |
cDNA | c.3508A>G |
Protein | p.I1170V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29222351T>C | c.3508A>G | p.I1170V | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29222351T>C | c.3508A>G | p.I1170V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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