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FGFR2 C382R - Gene Variant Detail

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Gene FGFR2
Variant C382R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 C382R (also referred to as C383R) lies within the helical domain of the Fgfr2 protein (UniProt.org). C382R results in proliferation similar to wild-type Fgfr2 in a competition assay (PMID: 34272467), but confers a gain of function on the Fgfr2 protein, as demonstrated by constitutive MAPK pathway activation (PMID: 24993163), and transformation of cells in culture (PMID: 24993163, PMID: 34272467).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 C382R

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Transcript NM_000141.5
gDNA chr10:g.121515260A>G
cDNA c.1144T>C
Protein p.C382R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_001320658 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121515260A>G c.1144T>C p.C382R RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 C382R FGFR2 N549D FGFR2 N549H FGFR2 N549K FGFR2 V564L cholangiocarcinoma predicted - resistant Pemigatinib Case Reports/Case Series Actionable In a Phase II trial (FIGHT-207), FGFR2 N549K, FGFR2 V564L, FGFR2 N549D, and FGFR2 N549H were identified in the post-progression circulating tumor DNA of a patient with cholangiocarcinoma harboring FGFR2 C382R who previously responded to Pemazyre (pemigatinib) treatment (PMID: 38710951; NCT03822117). 38710951
FGFR2 C382R FGFR2 N549D intrahepatic cholangiocarcinoma predicted - resistant Erdafitinib Case Reports/Case Series Actionable In a clinical case study, FGFR2 N550D (reported as N549D) was identified in the post-progression tissue biopsy of a patient with intrahepatic cholangiocarcinoma harboring FGFR2 C382R (reported as C383R) who previously responded to treatment with Balversa (erdafitinib) (PMID: 39226398). 39226398
FGFR2 C382R FGFR2 N549D intrahepatic cholangiocarcinoma conflicting Futibatinib Case Reports/Case Series Actionable In a clinical case study, a patient with intrahepatic cholangiocarcinoma harboring FGFR2 C382R (reported as C383R) and FGFR2 N549D (reported as N550D) experienced progressive disease on treatment with Lytgobi (futibatinib), however, treatment in the patient-derived xenograft (PDX) model resulted in tumor growth inhibition (PMID: 39226398). 39226398
FGFR2 C382R FGFR2 M538I FGFR2 N550D FGFR2 V565I intrahepatic cholangiocarcinoma predicted - sensitive Tinengotinib Case Reports/Case Series Actionable In a clinical case study, Tinengotinib (TT-00420) treatment resulted in 37% tumor shrinkage in a patient with intrahepatic cholangiocarcinoma harboring FGFR2 C382R, N550D, V565I, and M538I (PMID: 39706336). 39706336