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Gene | FGFR2 |
Variant | E596K |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR2 E596K lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E596K results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 E596K |
Transcript | NM_000141.5 |
gDNA | chr10:g.121496609C>T |
cDNA | c.1786G>A |
Protein | p.E596K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |