Gene Variant Detail

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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 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 result in 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
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
XM_011513420 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_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
XM_006713870.1 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 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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
FGFR3 K652E gain of function - predicted FGFR Inhibitor (Pan) FGFR3 Inhibitor
FGFR3 K652E PIK3CA P124L