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FGFR2 N549D - 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_001144915 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_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_001144919 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_001144919.2 chr10:g.121488068T>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_023029.2 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_000141.4 chr10:g.121498522T>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 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