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Gene | FGFR2 |
Variant | Y328N |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 Y328N lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). Y328N 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 Y328N |
Transcript | NM_000141.5 |
gDNA | chr10:g.121517421A>T |
cDNA | c.982T>A |
Protein | p.Y328N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121517421A>T | c.982T>A | p.Y328N | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121517421A>T | c.982T>A | p.Y328N | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121517421A>T | c.982T>A | p.Y328N | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121517421A>T | c.982T>A | p.Y328N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 Y328N | gain of function - predicted | FGFR Inhibitor (Pan) FGFR2 Inhibitor |