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Gene | ALK |
Variant | G1202del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | ALK G1202del results in the deletion of an amino acid in the protein kinase domain of the Alk protein at amino acid 1202 (UniProt.org). G1202del has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 27432227), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK G1202del |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220745_29220747delTCC |
cDNA | c.3605_3607delGAG |
Protein | p.G1202delG |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29220745_29220747delTCC | c.3605_3607delGAG | p.G1202del | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220745_29220747delTCC | c.3605_3607delGAG | p.G1202delG | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK G1202del | Advanced Solid Tumor | predicted - sensitive | TPX-0131 | Preclinical - Biochemical | Actionable | In a preclinical study, TPX-0131 inhibited kinase activity of ALK G1202del in an in vitro assay (PMID: 34158340). | 34158340 |