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Gene | FGFR2 |
Variant | V395D |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR2 V395D lies within the transmembrane domain of the Fgfr2 protein (UniProt.org). V395D results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 V395D |
Transcript | NM_000141.5 |
gDNA | chr10:g.121515220A>T |
cDNA | c.1184T>A |
Protein | p.V395D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121515220A>T | c.1184T>A | p.V395D | RefSeq | GRCh38/hg38 |
NM_001144918 | chr10:g.121500852A>T | c.1184T>A | p.V395D | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121515220A>T | c.1184T>A | p.V395D | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121515220A>T | c.1184T>A | p.V395D | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121515220A>T | c.1184T>A | p.V395D | RefSeq | GRCh38/hg38 |
NM_001144918.2 | chr10:g.121500852A>T | c.1184T>A | p.V395D | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121515220A>T | c.1184T>A | p.V395D | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121515220A>T | c.1184T>A | p.V395D | RefSeq | GRCh38/hg38 |
NM_001144918.1 | chr10:g.121500852A>T | c.1184T>A | p.V395D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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