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Gene | FGFR2 |
Variant | N550S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 N550S lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550S results in increased Fgfr2 kinase activity 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 N550S |
Transcript | NM_022970.4 |
gDNA | chr10:g.121498521T>C |
cDNA | c.1649A>G |
Protein | p.N550S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144913.1 | chr10:g.121498521T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121487992T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121498521T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144919.1 | chr10:g.121488064T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498521T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144919 | chr10:g.121488064T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121498521T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144914 | chr10:g.121487992T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144919.2 | chr10:g.121488064T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121498521T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121498521T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121487992T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 N550S | Advanced Solid Tumor | decreased response | Dovitinib | Preclinical | Actionable | In a preclinical study, transformed cells expressing FGFR2 N550S demonstrated a decreased response to treatment with Dovitinib (TKI258) (PMID: 23908597). | 23908597 |
FGFR2 N550S | Advanced Solid Tumor | decreased response | PD173074 | Preclinical | Actionable | In a preclinical study, transformed cells expressing FGFR2 N550S demonstrated a decreased response to treatment with PD173074 (PMID: 23908597). | 23908597 |
FGFR2 N550S | Advanced Solid Tumor | sensitive | Ponatinib | Preclinical | Actionable | In a preclinical study, Iclusig (ponatinib) inhibited Fgfr2 phosphorylation and proliferation in transformed cells expressing FGFR2 N550S (PMID: 23908597). | 23908597 |