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Gene | FGFR2 |
Variant | R678G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 R678G lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). R678G results in increased Fgfr2 autophosphorylation and substrate phosphorylation in in vitro kinase assays (PMID: 17803937). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 R678G |
Transcript | NM_000141.5 |
gDNA | chr10:g.121487379T>C |
cDNA | c.2032A>G |
Protein | p.R678G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024447890.1 | chr10:g.121483760T>C | c.2032A>G | p.R678G | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121487379T>C | c.2032A>G | p.R678G | RefSeq | GRCh38/hg38 |
XM_006717711 | chr10:g.121483760T>C | c.2032A>G | p.R678G | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121487379T>C | c.2032A>G | p.R678G | RefSeq | GRCh38/hg38 |
XM_024447890.2 | chr10:g.121483760T>C | c.2032A>G | p.R678G | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121487379T>C | c.2032A>G | p.R678G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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