FGFR2 C383R
Gene Variant Detail

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Gene FGFR2
Variant C383R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 C383R (corresponds to C382R in the canonical isoform) lies within the transmembrane domain of the Fgfr2 protein (UniProt.org). The functional effect of C383R is conflicting as it results in Fgfr2 autophosphorylation and transformation in culture in one study (PMID: 9136983), but results in colony formation similar to wild-type Fgfr2 in another study, and retains Frs2 phosphorylation but results in loss of FGF7-stimulated shedding of HB-EGF and Mapk phosphorylation in culture (PMID: 37759450), and therefore, its effect on Fgfr2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 C383R

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Transcript NM_022970.4
gDNA chr10:g.121515260A>G
cDNA c.1147T>C
Protein p.C383R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_022970 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 C383R endometrial cancer sensitive Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, Fexagratinib (AZD4547) treatment induced cell death and reduced survival of an endometrial cancer cell line harboring FGFR2 C383R in culture (PMID: 30537101). 30537101
FGFR2 C383R endometrial cancer sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) treatment induced cell death and reduced survival of an endometrial cancer cell line harboring FGFR2 C383R in culture (PMID: 30537101). 30537101
FGFR2 C383R endometrial cancer sensitive PD173074 Preclinical - Cell culture Actionable In a preclinical study, PD173074 treatment induced cell death and reduced survival of an endometrial cancer cell line harboring FGFR2 C383R in culture (PMID: 30537101). 30537101
FGFR2 C383R endometrial cancer sensitive ABT-737 + Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, an endometrial cancer cell line harboring FGFR2 C383R demonstrated increased cell death following treatment with Fexagratinib (AZD4547) and ABT-737 combination compared to either agent alone in culture (PMID: 30537101). 30537101
FGFR2 C383R endometrial cancer sensitive ABT-737 + Infigratinib Preclinical - Cell culture Actionable In a preclinical study, an endometrial cancer cell line harboring FGFR2 C383R demonstrated increased cell death following treatment with Truseltiq (infigratinib) and ABT-737 combination compared to either agent alone in culture (PMID: 30537101). 30537101
FGFR2 C383R endometrial cancer sensitive ABT-737 + PD173074 Preclinical - Cell culture Actionable In a preclinical study, an endometrial cancer cell line harboring FGFR2 C383R demonstrated increased cell death following treatment with PD173074 and ABT-737 combination compared to either agent alone in culture (PMID: 30537101). 30537101
FGFR2 C383R intrahepatic cholangiocarcinoma predicted - sensitive Futibatinib Case Reports/Case Series Actionable In a Phase I trial, Lytgobi (futibatinib) treatment at a dose of 20mg led to an objective response rate of 15.6% (10/64) and a median progression-free survival of 5.1 months in patients with cholangiocarcinoma harboring FGF or FGFR 1-4 alterations, including a partial response with a progression-free survival of 9.2 months and a duration of response of 6.5 months in a patient with intrahepatic cholangiocarcinoma harboring FGFR2 C383R (PMID: 34551969; NCT02052778). 34551969
FGFR2 C383R breast cancer sensitive Lirafugratinib Preclinical - Cell culture Actionable In a preclinical study, Lirafugratinib inhibited proliferation of a breast carcinoma cell line harboring FGFR2 C383R in culture (PMID: 37270847). 37270847
FGFR2 C383R cholangiocarcinoma predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a retrospective analysis, Balversa (erdafitinib) treatment resulted in a partial response with a progression-free survival of 9.3 months in a cholangiocarcinoma patient harboring FGFR2 C383R (PMID: 39706336; NCT01703481). 39706336