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Gene | FGFR2 |
Variant | E566A |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 E566A (corresponds to E565A in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). E566A results in increased Fgfr2 autophosphorylation and substrate phosphorylation in in vitro kinase assays (PMID: 17803937, PMID: 28166054) and is also associated with resistance to FGFR inhibitors (PMID: 31109923). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 E566A |
Transcript | NM_022970.4 |
gDNA | chr10:g.121496701T>G |
cDNA | c.1697A>C |
Protein | p.E566A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144913.1 | chr10:g.121496701T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121496701T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
XM_024447887.1 | chr10:g.121488070T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121496701T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
XM_024447887.2 | chr10:g.121488070T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121496701T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121496701T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121496701T>G | c.1697A>C | p.E566A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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