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 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
XM_006713870.1 chr4:g.1806159A>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 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
XM_006713871.2 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
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
NM_001163213 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_047449821.1 chr4:g.1806159A>G c.1954A>G p.K652E RefSeq GRCh38/hg38
XM_006713870 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

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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