Gene Variant Detail

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Gene FGFR2
Variant K526E
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 K526E lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K526E results in increased Fgfr2 autophosphorylation in an in vitro assay (PMID: 17803937), 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 K526E

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Transcript NM_000141.5
gDNA chr10:g.121498591T>C
cDNA c.1576A>G
Protein p.K526E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144916.2 chr10:g.121488056T>C c.1576A>G p.K526E RefSeq GRCh38/hg38
XM_017015921 chr10:g.121500862T>C c.1576A>G p.K526E RefSeq GRCh38/hg38
XM_024447891.2 chr10:g.121496534T>C c.1576A>G p.K526E RefSeq GRCh38/hg38
XM_017015921.3 chr10:g.121500862T>C c.1576A>G p.K526E RefSeq GRCh38/hg38
NM_001144916.1 chr10:g.121488056T>C c.1576A>G p.K526E RefSeq GRCh38/hg38
NM_001144916 chr10:g.121488056T>C c.1576A>G p.K526E RefSeq GRCh38/hg38
XM_006717712 chr10:g.121496534T>C c.1576A>G p.K526E RefSeq GRCh38/hg38
XM_017015921.2 chr10:g.121500862T>C c.1576A>G p.K526E RefSeq GRCh38/hg38
XM_024447891.1 chr10:g.121496534T>C c.1576A>G p.K526E RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121498591T>C c.1576A>G p.K526E RefSeq GRCh38/hg38
NM_000141 chr10:g.121498591T>C c.1576A>G p.K526E RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121498591T>C c.1576A>G p.K526E RefSeq GRCh38/hg38

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