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Gene | ALK |
Variant | G1202R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK G1202R lies within the protein kinase domain of the Alk protein (UniProt.org). G1202R demonstrates increased colony formation, decreased Cdh1 expression, increased migration and invasion, increased expression of metastatic factors Cdh2, Vim, Mmp2, Mmp9, and Slug in cell culture in the context of EML4-ALK (PMID: 35085771), and drug resistance in the context of ALK fusions (PMID: 22277784, PMID: 24736079, PMID: 35085771), 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 G1202X ALK G1202R |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220747C>T |
cDNA | c.3604G>A |
Protein | p.G1202R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29220747C>T | c.3604G>A | p.G1202R | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29220747C>T | c.3604G>A | p.G1202R | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220747C>T | c.3604G>A | p.G1202R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK G1202R | Advanced Solid Tumor | sensitive | Repotrectinib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, Augtyro (repotrectinib) inhibited ALK G1202R and suppressed tumor growth in cell line xenograft models with ALK G1202R (AACR, Cancer Res: April 2016; Volume 57, Abstract #2132). | detail... |
ALK G1202R | Advanced Solid Tumor | predicted - sensitive | Conteltinib | Preclinical - Biochemical | Actionable | In a preclinical study, Conteltinib (CT-707) inhibited ALK G1202R activity in an in vitro assay (PMID: 36424628). | 36424628 |
ALK G1202R | Advanced Solid Tumor | predicted - sensitive | APG-2449 | Preclinical - Biochemical | Actionable | In a preclinical study, APG-2449 inhibited the kinase activity of ALK G1202R in culture (PMID: 35820889). | 35820889 |