FGFR2 D530N - Gene Variant Detail

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Gene FGFR2
Variant D530N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FGFR2 D530N lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). D530N confers a loss of function on the Fgfr2 protein, as demonstrated by decreased protein kinase activity and reduced downstream MAPK signaling pathway activation, and decreased proliferation compared to wild-type Fgfr2 in cell culture (PMID: 19147536).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 inact mut FGFR2 D530N

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Transcript NM_000141.5
gDNA chr10:g.121498579C>T
cDNA c.1588G>A
Protein p.D530N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320654.2 chr10:g.121483727C>T c.1588G>A p.D530N RefSeq GRCh38/hg38
NM_000141 chr10:g.121498579C>T c.1588G>A p.D530N RefSeq GRCh38/hg38
XM_017015924 chr10:g.121488101C>T c.1588G>A p.D530N RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121498579C>T c.1588G>A p.D530N RefSeq GRCh38/hg38
XM_017015924.3 chr10:g.121488101C>T c.1588G>A p.D530N RefSeq GRCh38/hg38
NM_001320654 chr10:g.121483727C>T c.1588G>A p.D530N RefSeq GRCh38/hg38
XM_017015923 chr10:g.121496591C>T c.1588G>A p.D530N RefSeq GRCh38/hg38
NM_001320654.1 chr10:g.121483727C>T c.1588G>A p.D530N RefSeq GRCh38/hg38
XM_017015924.2 chr10:g.121488101C>T c.1588G>A p.D530N RefSeq GRCh38/hg38
XM_024447889.1 chr10:g.121496591C>T c.1588G>A p.D530N RefSeq GRCh38/hg38
XM_024447889.2 chr10:g.121496591C>T c.1588G>A p.D530N RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121498579C>T c.1588G>A p.D530N RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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