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Gene FGFR3
Variant D641N
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 D641N lies within the TK-2 domain of the Fgfr3 protein (PMID: 19287463). D641N results in proliferation similar to wild-type Fgfr3 in a competition assay and transformation activity similar to wild-type Fgfr3 in cultured cells (PMID: 34272467), but increased Fgfr3 autophosphorylation and substrate phosphorylation in culture (PMID: 26992226), and therefore, is predicted to lead to a gain of Fgfr3 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 D641N

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Transcript NM_000142.5
gDNA chr4:g.1806135G>A
cDNA c.1921G>A
Protein p.D641N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873.1 chr4:g.1806135G>A c.1921G>A p.D641N RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1806135G>A c.1921G>A p.D641N RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1806135G>A c.1921G>A p.D641N RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1806135G>A c.1921G>A p.D641N RefSeq GRCh38/hg38
NM_000142 chr4:g.1806135G>A c.1921G>A p.D641N RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1806135G>A c.1921G>A p.D641N RefSeq GRCh38/hg38
XM_006713873 chr4:g.1806135G>A c.1921G>A p.D641N RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1806135G>A c.1921G>A p.D641N RefSeq GRCh38/hg38

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