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FGFR2 E565G - Gene Variant Detail

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Gene FGFR2
Variant E565G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 E565G lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E565G results in increased Fgfr2 autophosphorylation and substrate phosphorylation in in vitro kinase assays (PMID: 17803937).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 E565G

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Transcript NM_000141.5
gDNA chr10:g.121496701T>C
cDNA c.1694A>G
Protein p.E565G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141 chr10:g.121496701T>C c.1694A>G p.E565G RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121496701T>C c.1694A>G p.E565G RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121496701T>C c.1694A>G p.E565G RefSeq GRCh38/hg38
XM_024447888.1 chr10:g.121488070T>C c.1694A>G p.E565G RefSeq GRCh38/hg38
XM_024447888.2 chr10:g.121488070T>C c.1694A>G p.E565G RefSeq GRCh38/hg38
XM_017015922 chr10:g.121488070T>C c.1694A>G p.E565G RefSeq GRCh38/hg38

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