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Gene | FGFR2 |
Variant | G364E |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 G364E lies within the extracellular domain of the Fgfr2 protein (UniProt.org). G364E results in decreased proliferation 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 G364E |
Transcript | NM_000141.5 |
gDNA | chr10:g.121515313C>T |
cDNA | c.1091G>A |
Protein | p.G364E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121515313C>T | c.1091G>A | p.G364E | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121515313C>T | c.1091G>A | p.G364E | RefSeq | GRCh38/hg38 |
XM_017015925.3 | chr10:g.121503844C>T | c.1091G>A | p.G364E | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121515313C>T | c.1091G>A | p.G364E | RefSeq | GRCh38/hg38 |
XM_017015921.3 | chr10:g.121517368_121517369delGTinsAG | c.1091_1092delGTinsAG | p.G364E | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121515313C>T | c.1091G>A | p.G364E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 G364E | gain of function - predicted | FGFR Inhibitor (Pan) FGFR2 Inhibitor |