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Gene | ALK |
Variant | R1181H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK R1181H lies within the protein kinase domain of the Alk protein (UniProt.org). R1181H results in increased cytokine-independent growth and phosphorylation of Stat3, Erk, Akt, and demonstrates resistance to first generation Alk inhibitors in the context of EML4-ALK in culture (PMID: 38960389), but has not been individually characterized and therefore, its effect on Alk protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK R1181H |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220809C>T |
cDNA | c.3542G>A |
Protein | p.R1181H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29220809C>T | c.3542G>A | p.R1181H | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220809C>T | c.3542G>A | p.R1181H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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