Gene Variant Detail

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Gene FGFR2
Variant N549D
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 N549D lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N549D results in proliferation similar to wild-type Fgfr2 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467) and has been associated with resistance to Fgfr inhibitors in the context of an FGFR2 fusion in culture (PMID: 28034880), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 N549D

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Transcript NM_000141.5
gDNA chr10:g.121498522T>C
cDNA c.1645A>G
Protein p.N549D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.4 chr10:g.121498522T>C c.1645A>G p.N549D RefSeq GRCh38/hg38
NM_023029.2 chr10:g.121488065T>C c.1645A>G p.N549D RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121488068T>C c.1645A>G p.N549D RefSeq GRCh38/hg38
NM_023029.2 chr10:g.121488065T>C c.1645A>G p.N549D RefSeq GRCh38/hg38
NM_023029 chr10:g.121488065T>C c.1645A>G p.N549D RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121498522T>C c.1645A>G p.N549D RefSeq GRCh38/hg38
NM_001144915 chr10:g.121488065T>C c.1645A>G p.N549D RefSeq GRCh38/hg38
NM_001144919.1 chr10:g.121488068T>C c.1645A>G p.N549D RefSeq GRCh38/hg38
NM_001144915.1 chr10:g.121488065T>C c.1645A>G p.N549D RefSeq GRCh38/hg38
NM_001144915.2 chr10:g.121488065T>C c.1645A>G p.N549D RefSeq GRCh38/hg38
NM_000141 chr10:g.121498522T>C c.1645A>G p.N549D RefSeq GRCh38/hg38
NM_001144919 chr10:g.121488068T>C c.1645A>G p.N549D RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 N549D Advanced Solid Tumor resistant AZD4547 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 N549D were resistant to treatment with AZD4547 in culture (PMID: 34272467). 34272467
FGFR2 N549D Advanced Solid Tumor resistant Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 N549D were resistant to treatment with Truseltiq (infigratinib) in culture (PMID: 34272467). 34272467
FGFR2 N549D Advanced Solid Tumor resistant Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 N549D were resistant to treatment with Balversa (erdafitinib) in culture (PMID: 34272467). 34272467
FGFR2 N549D Advanced Solid Tumor sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 N549D were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 N549D Advanced Solid Tumor resistant Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 N549D were resistant to treatment with Pemazyre (pemigatinib) in culture (PMID: 34272467). 34272467
FGFR2 N549D Advanced Solid Tumor resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 N549D were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR2 N549D Advanced Solid Tumor predicted - sensitive RLY-4008 Preclinical - Biochemical Actionable In a preclinical study, RLY-4008 treatment inhibited Fgfr2 phosphorylation in cultured cells expressing FGFR2 N549D (PMID: 37270847). 37270847