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Gene | FGFR2 |
Variant | G271E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FGFR2 G271E lies within the Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). G271E confers a loss of function to the Fgfr2 protein as indicated by impaired receptor processing and decreased cell proliferation as compared to wild-type Fgfr2 in culture (PMID: 19147536). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 exon7 FGFR2 G271E FGFR2 mutant FGFR2 inact mut FGFR2 G271E |
Transcript | NM_000141.5 |
gDNA | chr10:g.121520106C>T |
cDNA | c.812G>A |
Protein | p.G271E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001320658.2 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_001144917 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121520106C>T | c.812G>A | p.G271E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 G271E | loss of function |