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Gene | FGFR2 |
Variant | E565A |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 E565A lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E565A demonstrates resistance to FGFR inhibitors in the context of FGFR2-SHTN1 in culture (PMID: 31911531), and results in increased Fgfr2 autophosphorylation and substrate phosphorylation in in vitro kinase assays (PMID: 17803937, PMID: 28166054). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 E565A |
Transcript | NM_000141.5 |
gDNA | chr10:g.121496701T>G |
cDNA | c.1694A>C |
Protein | p.E565A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121496701T>G | c.1694A>C | p.E565A | RefSeq | GRCh38/hg38 |
XM_017015922 | chr10:g.121488070T>G | c.1694A>C | p.E565A | RefSeq | GRCh38/hg38 |
XM_024447888.2 | chr10:g.121488070T>G | c.1694A>C | p.E565A | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121496701T>G | c.1694A>C | p.E565A | RefSeq | GRCh38/hg38 |
XM_024447888.1 | chr10:g.121488070T>G | c.1694A>C | p.E565A | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121496701T>G | c.1694A>C | p.E565A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 E565A | Advanced Solid Tumor | predicted - sensitive | Lirafugratinib | Preclinical - Biochemical | Actionable | In a preclinical study, Lirafugratinib treatment inhibited Fgfr2 phosphorylation in cultured cells expressing FGFR2 E565A (PMID: 37270847). | 37270847 |