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Gene | FGFR2 |
Variant | I642V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FGFR2 I642V lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). I642V confers a loss of function on the Fgfr2 protein, as demonstrated by decreased protein kinase activity and reduced downstream MAPK signaling pathway activation and decreased proliferation compared to wild-type Fgfr2 in cell culture (PMID: 19147536). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 inact mut FGFR2 I642V |
Transcript | NM_000141.5 |
gDNA | chr10:g.121488053T>C |
cDNA | c.1924A>G |
Protein | p.I642V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121488053T>C | c.1924A>G | p.I642V | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121488053T>C | c.1924A>G | p.I642V | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121488053T>C | c.1924A>G | p.I642V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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