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Gene | ALK |
Variant | A195V |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | ALK A195V lies within the extracellular domain of the Alk protein (UniProt.org). A195V has not been biochemically characterized, but results in similar cell proliferation and viability levels to wild-type Alk in cultured cells (PMID: 29533785), and therefore, is predicted to have no effect on Alk protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK A195V |
Transcript | NM_004304.5 |
gDNA | chr2:g.29920076G>A |
cDNA | c.584C>T |
Protein | p.A195V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29920076G>A | c.584C>T | p.A195V | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29920076G>A | c.584C>T | p.A195V | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29920076G>A | c.584C>T | p.A195V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK A195V | no effect - predicted |