Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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

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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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
XM_006713870 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_011513420.2 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
NM_001163213 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_006713871.1 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_011513420 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
NM_001163213.1 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR3 K652E Advanced Solid Tumor sensitive Vofatamab Preclinical - Cell culture Actionable In a preclinical study, Vofatamab (B-701) 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
FGFR3 K652E urinary bladder cancer resistant PD173074 Preclinical - Cell line xenograft Actionable In a preclinical study, bladder cancer cells harboring FGFR3 K652E were resistant to PD173074 in culture and in cell line xenograft models (PMID: 23558953). 23558953
FGFR3 K652E Advanced Solid Tumor sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) decreased viability of a cell line expressing FGFR3 K652E in culture (PMID: 32370101). 32370101
FGFR3 K652E Advanced Solid Tumor sensitive Dasatinib + Infigratinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Truseltiq (infigratinib) and Sprycel (dasatinib) treatment inhibited viability of a cell line expressing FGFR3 K652E in culture (PMID: 32370101). 32370101