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Gene | ALK |
Variant | S1206R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK S1206R lies within the protein kinase domain of the Alk protein (UniProt.org). S1206R has been demonstrated to occur as a secondary drug resistance mutation in the context of EML4-ALK (PMID: 22034911), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK S1206R |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220734_29220735delTCinsCG |
cDNA | c.3616_3617delTCinsCG |
Protein | p.S1206R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29220734_29220735delTCinsCG | c.3616_3617delTCinsCG | p.S1206R | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220734_29220735delTCinsCG | c.3616_3617delTCinsCG | p.S1206R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK S1206R | unknown | |
EML4 - ALK ALK S1206R |