Gene Variant Detail

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Gene FGFR2
Variant C383R
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 C383R (corresponds to C382R in the canonical isoform) lies within the transmembrane domain of the Fgfr2 protein (UniProt.org). C383R results in Fgfr2 autophosphorylation and transformation in culture (PMID: 9136983), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut 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_022970 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_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

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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 AZD4547 Preclinical - Cell culture Actionable In a preclinical study, 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 + AZD4547 Preclinical - Cell culture Actionable In a preclinical study, an endometrial cancer cell line harboring FGFR2 C383R demonstrated increased cell death following treatment with 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 RLY-4008 Preclinical - Cell culture Actionable In a preclinical study, RLY-4008 inhibited proliferation of a breast carcinoma cell line harboring FGFR2 C383R in culture (PMID: 37270847). 37270847