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Gene | FGFR2 |
Variant | Y375C |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 Y375C lies within the extracellular juxtamembrane domain of the Fgfr2 protein (PMID: 17525745). Y375C results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), but constitutive phosphorylation of Fgfr2 in cell culture, activation of Mapk p38 signaling, and abnormal proliferation and differentiation in the skin and skull of transgenic mouse models (PMID: 22585574). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 Y375C |
Transcript | NM_000141.5 |
gDNA | chr10:g.121515280T>C |
cDNA | c.1124A>G |
Protein | p.Y375C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121515280T>C | c.1124A>G | p.Y375C | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121515280T>C | c.1124A>G | p.Y375C | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121515280T>C | c.1124A>G | p.Y375C | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121515280T>C | c.1124A>G | p.Y375C | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121515280T>C | c.1124A>G | p.Y375C | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121515280T>C | c.1124A>G | p.Y375C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 Y375C | gain of function | FGFR Inhibitor (Pan) FGFR2 Inhibitor |
FGFR2 Y375C FGFR2 amp |