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Gene FGFR2
Variant N550H
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 N550H (corresponds to N549H in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550H results in increased Fgfr2 kinase activity, as well as increased Fgfr2 phosphorylation and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597).
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 N550H

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Transcript NM_022970.4
gDNA chr10:g.121498522T>G
cDNA c.1648A>C
Protein p.N550H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_022970 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121487993T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144919 chr10:g.121488065T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144914 chr10:g.121487993T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121488065T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121487993T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498522T>G c.1648A>C p.N550H RefSeq GRCh38/hg38
NM_001144919.1 chr10:g.121488065T>G c.1648A>C p.N550H RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 N550H Advanced Solid Tumor decreased response Dovitinib Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 N550H demonstrated a decreased response to treatment with Dovitinib (TKI258) (PMID: 23908597). 23908597
FGFR2 N550H Advanced Solid Tumor resistant PD173074 Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 N550H were resistant to treatment with PD173074 (PMID: 23908597). 23908597
FGFR2 N550H Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited Fgfr2 phosphorylation and proliferation in transformed cells expressing FGFR2 N550H (PMID: 23908597). 23908597
FGFR2 N550H Advanced Solid Tumor predicted - sensitive TYRA-200 Preclinical - Biochemical Actionable In a preclinical study, TYRA-200 inhibited FGFR2 N550H in an in vitro assay (Eur J Cancer 2022 Vol 174, Supp 1:S16). detail...