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Gene | FGFR2 |
Variant | V564L |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 V564L (also referred to as V565L from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V564L results in increased Fgfr2 kinase activity in cell culture and has been shown to be associated with secondary resistance to FGFR inhibitors (PMID: 25169980), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 V564L |
Transcript | NM_000141.5 |
gDNA | chr10:g.121496705C>G |
cDNA | c.1690G>C |
Protein | p.V564L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144916.2 | chr10:g.121487376C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121496705C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
NM_001144916.1 | chr10:g.121487376C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121496705C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121496705C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
NM_001144916 | chr10:g.121487376C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
XM_024447887.2 | chr10:g.121488077C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
XM_024447887.1 | chr10:g.121488077C>G | c.1690G>C | p.V564L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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