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Gene | ALK |
Variant | R1192Q |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ALK R1192Q lies within the protein kinase domain of the Alk protein (UniProt.org). R1192Q does not result in Alk autophosphorylation and is not transforming in culture (PMID: 22086496), and therefore, is predicted to have no effect on Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK R1192Q |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220776C>T |
cDNA | c.3575G>A |
Protein | p.R1192Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29220776C>T | c.3575G>A | p.R1192Q | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220776C>T | c.3575G>A | p.R1192Q | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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