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Gene FGFR2
Variant P253R
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 P253R lies within the extracellular domain of the Fgfr2 protein (UniProt.org). P253R results in transformation activity similar to wild-type Fgfr2 in one study (PMID: 34272467), but a growth advantage relative to wild-type Fgfr2 in a competition assay (PMID: 34272467), loss of ligand specificity, activation of the p38/MAPK pathway in transgenic mouse models, and is transforming in cell culture (PMID: 11121055, PMID: 20175913, PMID: 23786770), 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 P253R

FGFR2 mutant FGFR2 exon7 FGFR2 P253R

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Transcript NM_000141.5
gDNA chr10:g.121520160G>C
cDNA c.758C>G
Protein p.P253R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320658.2 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_022970 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_001144917 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_001144913 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_001320658 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_000141 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121520160G>C c.758C>G p.P253R RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 P253R Advanced Solid Tumor predicted - sensitive Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 P253R were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 P253R Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 P253R were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 P253R Advanced Solid Tumor predicted - resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 P253R were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR2 P253R head and neck squamous cell carcinoma predicted - sensitive Pazopanib Case Reports/Case Series Actionable In a clinical case study, treatment with Votrient (pazopanib) resulted in reduced tumor size in a patient with head and neck squamous cell carcinoma harboring FGFR2 P253R (PMID: 23786770). 23786770
FGFR2 P253R Advanced Solid Tumor predicted - sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 P253R were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 P253R Advanced Solid Tumor predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 P253R were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 P253R Advanced Solid Tumor predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 P253R were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 P253R Advanced Solid Tumor predicted - sensitive E7090 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 P253R were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467