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Gene | FGFR2 |
Variant | E718K |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 E718K lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E718K results in decreased proliferation relative to wild-type Fgfr2 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 E718K |
Transcript | NM_000141.5 |
gDNA | chr10:g.121485438C>T |
cDNA | c.2152G>A |
Protein | p.E718K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121485438C>T | c.2152G>A | p.E718K | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121485438C>T | c.2152G>A | p.E718K | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121485438C>T | c.2152G>A | p.E718K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 E718K | gain of function - predicted | FGFR Inhibitor (Pan) FGFR2 Inhibitor |