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Gene | FGFR2 |
Variant | D650A |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 D650A lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). D650A demonstrates increased kinase activity compared to wild-type Fgfr2 in an in vitro assay (PMID: 28166054), 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 D650A |
Transcript | NM_000141.5 |
gDNA | chr10:g.121488028T>G |
cDNA | c.1949A>C |
Protein | p.D650A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144919.2 | chr10:g.121483786T>G | c.1949A>C | p.D650A | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121488028T>G | c.1949A>C | p.D650A | RefSeq | GRCh38/hg38 |
NM_001144919.1 | chr10:g.121483786T>G | c.1949A>C | p.D650A | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121488028T>G | c.1949A>C | p.D650A | RefSeq | GRCh38/hg38 |
NM_001144919 | chr10:g.121483786T>G | c.1949A>C | p.D650A | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121488028T>G | c.1949A>C | p.D650A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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