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Gene | ALK |
Variant | E717K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK E717K lies within the extracellular domain of the Alk protein (UniProt.org). E717K has not been characterized in the scientific literature and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK E717K |
Transcript | NM_004304.5 |
gDNA | chr2:g.29251160C>T |
cDNA | c.2149G>A |
Protein | p.E717K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29251160C>T | c.2149G>A | p.E717K | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29251160C>T | c.2149G>A | p.E717K | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29251160C>T | c.2149G>A | p.E717K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK E717K | unknown |