Gene Variant Detail

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Gene FGFR2
Variant N549K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 N549K lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N549K confers a gain of function to the Fgfr2 protein resulting in a growth advantage relative to wild-type Fgfr2 in a competition assay, increased transformation activity in cultured cells (PMID: 34272467), oncogenic transformation in culture (PMID: 18552176, PMID: 17803937, PMID: 29533785) and increased MAPK pathway signaling in cultured cells (PMID: 19147536).
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 N549K

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Transcript NM_000141.4
gDNA chr10:g.121498520A>C
cDNA c.1647T>G
Protein p.N549K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.4 chr10:g.121498520A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_001144919 chr10:g.121488066G>C c.1647C>G p.N549K RefSeq GRCh38/hg38
NM_001144919.1 chr10:g.121488066G>C c.1647C>G p.N549K RefSeq GRCh38/hg38
NM_001144915.1 chr10:g.121488063A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_023029.2 chr10:g.121488063A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_000141 chr10:g.121498520A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_001144915 chr10:g.121488063A>C c.1647T>G p.N549K RefSeq GRCh38/hg38
NM_023029 chr10:g.121488063A>C c.1647T>G p.N549K RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 N549K endometrial cancer sensitive Ponatinib Preclinical - Cell line xenograft Actionable In a preclinical study, Iclusig (ponatinib) inhibited growth of endometrial cancer cells harboring FGFR2 N549K in culture and in cell line xenograft models (PMID: 22238366). 22238366
FGFR2 N549K endometrial cancer decreased response Dovitinib Preclinical Actionable In a preclinical study, Dovitinib (TKI258) did not potently inhibit proliferation of endometrial cancer cell lines harboring FGFR2 N549K in cell culture (PMID: 22238366). 22238366
FGFR2 N549K endometrial cancer sensitive Cediranib Preclinical Actionable In a preclinical study, Cediranib (AZD-2171) inhibited growth of endometrial cancer cells harboring FGFR2 N549K in cell culture (PMID: 22238366). 22238366
FGFR2 N549K endometrial cancer resistant Nintedanib Preclinical Actionable In a preclinical study, Ofev (Nintedanib) did not inhibit growth of endometrial cancer cells harboring FGFR2 N549K in cell culture (PMID: 22238366). 22238366
FGFR2 N549K endometrial cancer no benefit Brivanib Preclinical Actionable In a preclinical study, Brivanib (BMS-540215) did not inhibit growth of endometrial cancer cells harboring FGFR2 N549K in cell culture (PMID: 22238366). 22238366
FGFR2 N549K endometrial carcinoma sensitive FIIN-1 Preclinical Actionable In a preclinical study, FIIN-1 inhibited proliferation of endometrial carcinoma cell lines harboring FGFR2 N549K mutation in culture (PMID: 20338520). 20338520
FGFR2 N549K endometrial cancer sensitive Debio 1347 Preclinical Actionable In a preclinical study, Debio 1347 inhibited proliferation of endometrial cancer cells harboring FGFR2 N549K mutation in culture (PMID: 25169980). 25169980
FGFR2 N549K endometrial carcinoma no benefit RO4987655 Preclinical - Cell culture Actionable In a preclinical study, endometrial carcinoma cells harboring FGFR2 N549K were not sensitive to RO4987655 in culture (PMID: 26438159). 26438159
FGFR2 N549K endometrial carcinoma no benefit RO5126766 Preclinical - Cell culture Actionable In a preclinical study, endometrial carcinoma cells harboring FGFR2 N549K were not sensitive to RO5126766 in culture (PMID: 26438159). 26438159
FGFR2 N549K endometrial carcinoma no benefit Selumetinib Preclinical - Cell culture Actionable In a preclinical study, endometrial carcinoma cells harboring FGFR2 N549K were not sensitive to Selumetinib (AZD-6244) in culture (PMID: 26438159). 26438159
FGFR2 N549K endometrial adenocarcinoma sensitive PRN1371 Preclinical - Cell culture Actionable In a preclinical study, PRN1371 inhibited proliferation of endometrial adenocarcinoma cells harboring FGFR2 N549K in culture (PMID: 28978721). 28978721
FGFR2 N549K endometrial cancer sensitive Derazantinib Preclinical - Cell culture Actionable In a preclinical study, Derazantinib (ARQ 087) inhibited growth of endometrial cancer cell lines harboring FGFR2 N549K in culture (PMID: 27627808). 27627808
FGFR2 N549K Advanced Solid Tumor resistant AZD4547 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 N549K were resistant to treatment with AZD4547 in culture (PMID: 34272467). 34272467
FGFR2 N549K Advanced Solid Tumor resistant Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 N549K were resistant to treatment with Truseltiq (infigratinib) in culture (PMID: 34272467). 34272467
FGFR2 N549K Advanced Solid Tumor resistant Erdafitinib Preclinical - Cell line xenograft Actionable In a preclinical study, cells expressing FGFR2 N549K were resistant to treatment with Balversa (erdafitinib) in culture and cell line xenograft models (PMID: 34272467). 34272467
FGFR2 N549K Advanced Solid Tumor resistant Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 N549K were resistant to treatment with Pemazyre (pemigatinib) in culture (PMID: 34272467). 34272467
FGFR2 N549K Advanced Solid Tumor conflicting E7090 Preclinical - Cell line xenograft Actionable In a preclinical study, cells expressing FGFR2 N549K did not demonstrate sensitivity to treatment with E7090 in culture, but E7090 treatment led to inhibition of tumor growth in a cell line xenograft model (PMID: 34272467). 34272467
FGFR2 N549K Advanced Solid Tumor resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 N549K were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR2 N549K endometrial cancer predicted - sensitive RLY-4008 Preclinical - Cell culture Actionable In a preclinical study, RLY-4008 treatment led to tumor regression in a cell line xenograft model of endometrial cancer harboring FGFR2 N549K (Cancer Res 2021;81(13_Suppl):Abstract nr 1455). detail...
FGFR2 N549K endometrial cancer predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) treatment led to inhibition of cell proliferation in an endometrial cancer cell line harboring FGFR2 N549K in culture (PMID: 32973082). 32973082