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Gene | FGFR2 |
Variant | E565G |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 E565G lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E565G 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 E565G |
Transcript | NM_000141.5 |
gDNA | chr10:g.121496701T>C |
cDNA | c.1694A>G |
Protein | p.E565G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_024447888.2 | chr10:g.121488070T>C | c.1694A>G | p.E565G | RefSeq | GRCh38/hg38 |
XM_017015922 | chr10:g.121488070T>C | c.1694A>G | p.E565G | RefSeq | GRCh38/hg38 |
XM_024447888.1 | chr10:g.121488070T>C | c.1694A>G | p.E565G | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121496701T>C | c.1694A>G | p.E565G | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121496701T>C | c.1694A>G | p.E565G | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121496701T>C | c.1694A>G | p.E565G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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