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Gene | ALK |
Variant | S1206C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK S1206C lies within the protein kinase domain of the Alk protein (UniProt.org). S1206C has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 25421750), 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 S1206C |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220734G>C |
cDNA | c.3617C>G |
Protein | p.S1206C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29220734G>C | c.3617C>G | p.S1206C | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220734G>C | c.3617C>G | p.S1206C | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220734G>C | c.3617C>G | p.S1206C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK S1206C | unknown | |
ALK L1196M ALK S1206C | ||
EML4 - ALK ALK S1206C ALK E1210K | ||
ALK S1206C ALK E1210K |