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Gene FGFR3
Variant K652E
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 K652E (corresponds to K650E in the canonical isoform) lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K652E results in constitutive phosphorylation of Src, Akt and Erk phosphorylation similar to wild-type Fgfr3, and anchorage-independent growth in cultured cells (PMID: 32370101), and has been demonstrated to induce transformation of mouse fibroblasts, but has a lesser degree of signaling and phenotypic effect in immortalized normal human urothelial cells (PMID: 19749790), and therefore, is predicted to lead to a gain of Fgfr3 protein function.
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 K652E

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Transcript NM_001163213.2
gDNA chr4:g.1806162A>G
cDNA c.1954A>G
Protein p.K652E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001163213.1 chr4:g.1806162A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1806162A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.1806162A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
XM_011513420 chr4:g.1806162A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1806159A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1806162A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1806162A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1806159A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1806162A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1806159A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
XM_006713871 chr4:g.1806162A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
XM_006713870 chr4:g.1806159A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
NM_001163213 chr4:g.1806162A>G c.1954A>G p.K652E RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries