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Gene | FGFR2 |
Variant | K641N |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 K641N lies within the protein kinase domain of the Fgfr2b protein (UniProt.org). K641N (reported as K642N) 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 K641N |
Transcript | NM_000141.5 |
gDNA | chr10:g.121488054T>G |
cDNA | c.1923A>C |
Protein | p.K641N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141 | chr10:g.121488054T>G | c.1923A>C | p.K641N | RefSeq | GRCh38/hg38 |
XM_006717710.4 | chr10:g.121496532T>G | c.1923A>C | p.K641N | RefSeq | GRCh38/hg38 |
XM_006717710.5 | chr10:g.121496532T>G | c.1923A>C | p.K641N | RefSeq | GRCh38/hg38 |
XM_006717710 | chr10:g.121496532T>G | c.1923A>C | p.K641N | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121488054T>G | c.1923A>C | p.K641N | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121488054T>G | c.1923A>C | p.K641N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 K641N | Advanced Solid Tumor | predicted - sensitive | Lirafugratinib | Preclinical - Biochemical | Actionable | In a preclinical study, Lirafugratinib treatment inhibited Fgfr2 phosphorylation in cultured cells expressing FGFR2 K641N (PMID: 37270847). | 37270847 |