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Gene | FGFR3 |
Variant | A500T |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | FGFR3 A500T lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). A500T demonstrates autophosphorylation and substrate phosphorylation similar to wild-type Fgfr3 in cell culture (PMID: 26992226). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 A500T |
Transcript | NM_000142.5 |
gDNA | chr4:g.1805440G>A |
cDNA | c.1498G>A |
Protein | p.A500T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |