FGFR2 N550K
Gene Variant Detail

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Gene FGFR2
Variant N550K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 N550K (corresponds to N549K in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550K results in increased Fgfr2 kinase activity (PMID: 32723837, PMID: 23908597) and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 N550K

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Transcript NM_022970.4
gDNA chr10:g.121498520A>C
cDNA c.1650T>G
Protein p.N550K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_022970 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144913 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121488063A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144919 chr10:g.121488063A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121487991A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144919.1 chr10:g.121488063A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121498520A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121487991A>C c.1650T>G p.N550K RefSeq GRCh38/hg38
NM_001144914 chr10:g.121487991A>C c.1650T>G p.N550K RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 N550K Advanced Solid Tumor resistant Dovitinib Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 N550K were resistant to treatment with Dovitinib (TKI258) (PMID: 23908597). 23908597
FGFR2 N550K Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited Fgfr2 phosphorylation and proliferation in transformed cells expressing FGFR2 N550K (PMID: 23908597). 23908597
FGFR2 N550K Advanced Solid Tumor resistant PD173074 Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 N550K were resistant to PD173074 (PMID: 23908597). 23908597
FGFR2 N550K Advanced Solid Tumor sensitive PRN1371 Preclinical - Cell culture Actionable In a preclinical study, PRN1371 inhibited proliferation of transformed cells over expressing FGFR2 N550K in culture (PMID: 28978721). 28978721
FGFR2 N550K endometrial cancer predicted - sensitive Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, endometrial cells harboring Fgfr2 N550K were less sensitive to the anti-proliferative effects of Fexagratinib (AZD4547) than the Fgfr2 double mutant, K310R, N550K (PMID: 26294741). 26294741
FGFR2 N550K endometrial cancer predicted - sensitive Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, Fexagratinib (AZD4547) treatment induced cell death in an endometrial cancer cell line harboring FGFR2 N550K in culture (PMID: 30537101). 30537101
FGFR2 N550K endometrial cancer sensitive ABT-737 + Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, an endometrial cancer cell line harboring FGFR2 N550K demonstrated increased cell death following treatment with Fexagratinib (AZD4547) and ABT-737 combination compared to either agent alone in culture (PMID: 30537101). 30537101
FGFR2 N550K endometrial cancer sensitive ABT-737 + Infigratinib Preclinical - Cell culture Actionable In a preclinical study, an endometrial cancer cell line harboring FGFR2 N550K demonstrated increased cell death following treatment with Truseltiq (infigratinib) and ABT-737 combination compared to either agent alone in culture (PMID: 30537101). 30537101
FGFR2 N550K endometrial cancer sensitive ABT-737 + PD173074 Preclinical - Cell culture Actionable In a preclinical study, an endometrial cancer cell line harboring FGFR2 N550K demonstrated increased cell death following treatment with PD173074 and ABT-737 combination compared to either agent alone in culture (PMID: 30537101). 30537101
FGFR2 N550K endometrial cancer predicted - sensitive PD173074 Preclinical - Cell culture Actionable In a preclinical study, PD173074 treatment induced cell death in an endometrial cancer cell line harboring FGFR2 N550K in culture (PMID: 30537101). 30537101
FGFR2 N550K endometrial cancer predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) treatment induced cell death in an endometrial cancer cell line harboring FGFR2 N550K in culture (PMID: 30537101). 30537101
FGFR2 N550K estrogen-receptor positive breast cancer sensitive Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, Fexagratinib (AZD4547) treatment decreased viability of ESR1-positive breast cancer cells expressing FGFR2 N550K in culture (PMID: 32723837). 32723837
FGFR2 N550K estrogen-receptor positive breast cancer sensitive FIIN-2 Preclinical - Cell culture Actionable In a preclinical study, FIIN-2 treatment decreased viability of ESR1-positive breast cancer cells expressing FGFR2 N550K in culture (PMID: 32723837). 32723837
FGFR2 N550K estrogen-receptor positive breast cancer sensitive FIIN-3 Preclinical - Cell culture Actionable In a preclinical study, FIIN-3 treatment decreased viability of ESR1-positive breast cancer cells expressing FGFR2 N550K in culture (PMID: 32723837). 32723837
FGFR2 N550K estrogen-receptor positive breast cancer sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) treatment decreased viability of ESR1-positive breast cancer cells expressing FGFR2 N550K in culture (PMID: 32723837). 32723837
FGFR2 N550K estrogen-receptor positive breast cancer sensitive SHP099 Preclinical - Cell culture Actionable In a preclinical study, SHP099 treatment decreased viability of ESR1-positive breast cancer cells expressing FGFR2 N550K in culture (PMID: 32723837). 32723837
FGFR2 N550K endometrial cancer predicted - sensitive TYRA-200 Preclinical - Cell line xenograft Actionable In a preclinical study, TYRA-200 demonstrated activity in an endometrial cancer cell line harboring FGFR2 N550K in culture and treatment resulted in 80% tumor regression in a cell line xenograft model (Eur J Cancer 2022 Vol 174, Supp 1:S16). detail...
FGFR2 N550K Advanced Solid Tumor predicted - sensitive TYRA-200 Preclinical - Cell culture Actionable In a preclinical study, TYRA-200 inhibited FGFR2 N550K in an in vitro assay and demonstrated activity in cells expressing FGFR2 N550K in culture (Eur J Cancer 2022 Vol 174, Supp 1:S16). detail...