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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 |
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 | 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_011513420.1 | chr4:g.1806162A>G | c.1954A>G | p.K652E | RefSeq | GRCh38/hg38 |
NM_001163213.1 | chr4:g.1806162A>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_006713870.2 | chr4:g.1806159A>G | c.1954A>G | p.K652E | RefSeq | GRCh38/hg38 |
XM_006713870.1 | chr4:g.1806159A>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_006713870 | chr4:g.1806159A>G | c.1954A>G | p.K652E | RefSeq | GRCh38/hg38 |
XM_011513420 | chr4:g.1806162A>G | c.1954A>G | p.K652E | RefSeq | GRCh38/hg38 |
XM_006713871 | 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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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