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Gene | FGFR2 |
Variant | C342Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 C342Y lies within the Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). C342Y results in activation of Fgfr2 signaling as indicated by decreased differentiation and increased apoptosis in osteoblasts in culture and in transgenic animal models (PMID: 10851026, PMID: 15316116). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 C342Y |
Transcript | NM_000141.5 |
gDNA | chr10:g.121517378C>T |
cDNA | c.1025G>A |
Protein | p.C342Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001320658.1 | chr10:g.121517378C>T | c.1025G>A | p.C342Y | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121517378C>T | c.1025G>A | p.C342Y | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121517378C>T | c.1025G>A | p.C342Y | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121517378C>T | c.1025G>A | p.C342Y | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121517378C>T | c.1025G>A | p.C342Y | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121517378C>T | c.1025G>A | p.C342Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 C342Y | gain of function | FGFR Inhibitor (Pan) FGFR2 Inhibitor |