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Gene | ALK |
Variant | M1166R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK M1166R lies within the protein kinase domain of the Alk protein (UniProt.org). M1166R confers a gain of function to the Alk protein, as indicated by ligand-independent activation of the Alk protein (PMID: 33674381, PMID: 25517749, PMID: 23104988), increased Erk and Stat3 phosphorylation in cell culture (PMID: 23104988), and transformation of cultured cells (PMID: 33674381, PMID: 25517749). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK M1166R |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222362A>C |
cDNA | c.3497T>G |
Protein | p.M1166R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29222362A>C | c.3497T>G | p.M1166R | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29222362A>C | c.3497T>G | p.M1166R | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29222362A>C | c.3497T>G | p.M1166R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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