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Gene | ALK |
Variant | C1235R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK C1235R lies within the protein kinase domain of the Alk protein (UniProt.org). C1235R has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 38448512), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK C1235R |
Transcript | NM_004304.5 |
gDNA | chr2:g.29214024A>G |
cDNA | c.3703T>C |
Protein | p.C1235R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29214024A>G | c.3703T>C | p.C1235R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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