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Gene | ALK |
Variant | R1209Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK R1209Q lies within the protein kinase domain of the Alk protein (UniProt.org). R1209Q leads to decreased cell proliferation and cell viability compared to wild-type Alk in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized, and therefore, its effect on Alk protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK R1209Q |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220725C>T |
cDNA | c.3626G>A |
Protein | p.R1209Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29220725C>T | c.3626G>A | p.R1209Q | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220725C>T | c.3626G>A | p.R1209Q | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220725C>T | c.3626G>A | p.R1209Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK R1209Q | unknown |