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Gene | FGFR2 |
Variant | D471N |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR2 D471N lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). D471N 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 D471N |
Transcript | NM_000141.5 |
gDNA | chr10:g.121503818C>T |
cDNA | c.1411G>A |
Protein | p.D471N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121503818C>T | c.1411G>A | p.D471N | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121503818C>T | c.1411G>A | p.D471N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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