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 K649E in the canonical isoform) lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K652E was demonstrated to induce transformation of mouse fibroblasts, but had 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

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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_006713871 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 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
FGFR3 K652E gain of function - predicted FGFR Inhibitor (Pan) FGFR3 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 K652E Advanced Solid Tumor sensitive R3Mab Preclinical - Cell culture Actionable In a preclinical study, R3Mab inhibited ligand-dependent cell proliferation in cells expressing FGFR3 K652E in culture (PMID: 19381019). 19381019
FGFR3 K652E urinary bladder cancer sensitive Derazantinib Preclinical - Cell culture Actionable In a preclinical study, Derazantinib (ARQ 087) inhibited growth of bladder cancer cells harboring FGFR3 K652E in culture (PMID: 27627808). 27627808