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Gene | ALK |
Variant | G1269S |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | ALK G1269S lies within the protein kinase domain of the Alk protein (UniProt.org). G1269S is predicted to confer a gain of function on the Alk protein as indicated by increased Alk phosphorylation (PMID: 21948233) and has been demonstrated to confer resistance to Alk inhibitors in the context of EML4-ALK (PMID: 21948233, PMID: 22034911). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK act mut ALK G1269S |
Transcript | NM_004304.5 |
gDNA | chr2:g.29209815_29209817delGGAinsAGC |
cDNA | c.3805_3807delGGAinsAGC |
Protein | p.G1269S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29209815_29209817delGGAinsAGC | c.3805_3807delGGAinsAGC | p.G1269S | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29209815_29209817delGGAinsAGC | c.3805_3807delGGAinsAGC | p.G1269S | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29209815_29209817delTCCinsGCT | c.3805_3807delGGAinsAGC | p.G1269S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
EML4 - ALK ALK G1269S | Advanced Solid Tumor | resistant | TPX-0131 | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing ALK G1269S in the context of EML4-ALK were resistant to TPX-0131 in culture (PMID: 34158340). | 34158340 |
EML4 - ALK ALK G1269S | Advanced Solid Tumor | resistant | Crizotinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing ALK G1269S in the context of EML4-ALK were resistant to Xalkori (crizotinib) in culture (PMID: 21948233). | 21948233 |
EML4 - ALK ALK G1269S | Advanced Solid Tumor | resistant | Crizotinib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, transformed cells expressing ALK G1269S in the context of EML4-ALK were resistant to Xalkori (crizotinib) in culture and in cell line xenograft models (PMID: 22034911). | 22034911 |