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Gene | FGFR2 |
Variant | D650L |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 D650L lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). D650L 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 D650L |
Transcript | NM_000141.5 |
gDNA | chr10:g.121488028_121488029delGAinsCT |
cDNA | c.1948_1949delGAinsCT |
Protein | p.D650L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144919.1 | chr10:g.121483786_121483787delGAinsCT | c.1948_1949delGAinsCT | p.D650L | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121488028_121488029delGAinsCT | c.1948_1949delGAinsCT | p.D650L | RefSeq | GRCh38/hg38 |
NM_001144919 | chr10:g.121483786_121483787delTCinsAG | c.1948_1949delGAinsCT | p.D650L | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121488028_121488029delTCinsAG | c.1948_1949delGAinsCT | p.D650L | RefSeq | GRCh38/hg38 |
NM_001144919.2 | chr10:g.121483786_121483787delGAinsCT | c.1948_1949delGAinsCT | p.D650L | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121488028_121488029delGAinsCT | c.1948_1949delGAinsCT | p.D650L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 D650L | gain of function - predicted | FGFR Inhibitor (Pan) FGFR2 Inhibitor |