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Gene | FGFR3 |
Variant | D617G |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FGFR3 D617G lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). D617G results in a loss of Fgfr3 activity in cell culture (PMID: 26992226), and therefore, is predicted to lead to a loss of Fgfr3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 inact mut FGFR3 D617G |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806064A>G |
cDNA | c.1850A>G |
Protein | p.D617G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |