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Gene | ALK |
Variant | P279L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK P279L lies within MAM domain 1 of the Alk protein (UniProt.org). P279L has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK P279L |
Transcript | NM_004304.5 |
gDNA | chr2:g.29694966G>A |
cDNA | c.836C>T |
Protein | p.P279L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29694966G>A | c.836C>T | p.P279L | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29694966G>A | c.836C>T | p.P279L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK P279L | unknown |