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Gene | FGFR2 |
Variant | S791T |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 S791T lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). S791T results in proliferation similar to wild-type Fgfr2 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 S791T |
Transcript | NM_000141.5 |
gDNA | chr10:g.121479952A>T |
cDNA | c.2371T>A |
Protein | p.S791T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121479952A>T | c.2371T>A | p.S791T | RefSeq | GRCh38/hg38 |
XM_006717708.4 | chr10:g.121480005C>G | c.2372G>C | p.S791T | RefSeq | GRCh38/hg38 |
XM_017015920.3 | chr10:g.121480097C>G | c.2372G>C | p.S791T | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121479952A>T | c.2371T>A | p.S791T | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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