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Gene | FGFR3 |
Variant | D641G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR3 D641G lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). D641G results in increased Fgfr3 autophosphorylation and substrate phosphorylation in cell culture (PMID: 26992226). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 act mut FGFR3 D641G |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806136A>G |
cDNA | c.1922A>G |
Protein | p.D641G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |