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Gene | ALK |
Variant | G1269S |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | ALK G1269S lies within the protein kinase domain of the Alk protein (UniProt.org). G1269S is predicted to confer a gain of function on the Alk protein as indicated by increased Alk phosphorylation (PMID: 21948233) and has been demonstrated to confer resistance to Alk inhibitors in the context of EML4-ALK (PMID: 21948233, PMID: 22034911). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK act mut ALK G1269S |
Transcript | NM_004304.5 |
gDNA | chr2:g.29209815_29209817delGGAinsAGC |
cDNA | c.3805_3807delGGAinsAGC |
Protein | p.G1269S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |