Gene Variant Detail

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Gene FGFR2
Variant E565A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 E565A lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E565A demonstrates resistance to FGFR inhibitors in the context of FGFR2-SHTN1 in culture (PMID: 31911531), and results in increased Fgfr2 autophosphorylation and substrate phosphorylation in in vitro kinase assays (PMID: 17803937, PMID: 28166054).
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 E565A

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Transcript NM_000141.4
gDNA chr10:g.121496701T>G
cDNA c.1694A>C
Protein p.E565A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.4 chr10:g.121496701T>G c.1694A>C p.E565A RefSeq GRCh38/hg38
NM_000141 chr10:g.121496701T>G c.1694A>C p.E565A RefSeq GRCh38/hg38
XM_024447888.1 chr10:g.121488070T>G c.1694A>C p.E565A RefSeq GRCh38/hg38
XM_017015922 chr10:g.121488070T>G c.1694A>C p.E565A RefSeq GRCh38/hg38

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