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FGFR2 E596K - Gene Variant Detail

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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

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Transcript NM_000141.5
gDNA chr10:g.121496609C>T
cDNA c.1786G>A
Protein p.E596K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022970.4 chr10:g.121496612C>T c.1786G>A p.E596K RefSeq GRCh38/hg38
NM_001144916 chr10:g.121485459C>T c.1786G>A p.E596K RefSeq GRCh38/hg38
NM_000141 chr10:g.121496609C>T c.1786G>A p.E596K RefSeq GRCh38/hg38
NM_022970 chr10:g.121496612C>T c.1786G>A p.E596K RefSeq GRCh38/hg38
NM_001144913 chr10:g.121496612C>T c.1786G>A p.E596K RefSeq GRCh38/hg38
NM_001144916.2 chr10:g.121485459C>T c.1786G>A p.E596K RefSeq GRCh38/hg38
NM_001144916.1 chr10:g.121485459C>T c.1786G>A p.E596K RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121496609C>T c.1786G>A p.E596K RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121496609C>T c.1786G>A p.E596K RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496612C>T c.1786G>A p.E596K RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496612C>T c.1786G>A p.E596K RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121496612C>T c.1786G>A p.E596K RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References