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Gene | ALK |
Variant | S1206Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK S1206Y lies within the protein kinase domain of the Alk protein (UniProt.org). S1206Y has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK rearrangements (PMID: 22277784, PMID: 24675041, PMID: 25727400), 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 S1206Y |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220734G>T |
cDNA | c.3617C>A |
Protein | p.S1206Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29220734G>T | c.3617C>A | p.S1206Y | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220734G>T | c.3617C>A | p.S1206Y | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220734G>T | c.3617C>A | p.S1206Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK S1206Y | Advanced Solid Tumor | predicted - sensitive | APG-2449 | Preclinical - Biochemical | Actionable | In a preclinical study, APG-2449 inhibited the kinase activity of ALK S1206Y in culture (PMID: 35820889). | 35820889 |