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Gene | ALK |
Variant | R753Q |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | ALK R753Q lies within the extracellular domain of the Alk protein (UniProt.org). R753Q results in increased cytokine-dependent growth in cell culture (PMID: 34646012), and therefore, is predicted to lead to a gain of Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK R753Q |
Transcript | NM_004304.5 |
gDNA | chr2:g.29239777C>T |
cDNA | c.2258G>A |
Protein | p.R753Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29239777C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29239777C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29239777C>T | c.2258G>A | p.R753Q | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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