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Gene | FGFR2 |
Variant | S780L |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 S780L lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). S780L results in sustained Fgfr2 phosphorylation and faster cell migration in response to Fgf1 in cell culture (PMID: 31146385), 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 S780L |
Transcript | NM_000141.5 |
gDNA | chr10:g.121479984G>A |
cDNA | c.2339C>T |
Protein | p.S780L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121479984G>A | c.2339C>T | p.S780L | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121479978_121479979delAGinsCT | c.2338_2339delAGinsCT | p.S780L | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121479984G>A | c.2339C>T | p.S780L | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121479978_121479979delCTinsAG | c.2338_2339delAGinsCT | p.S780L | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121479978_121479979delAGinsCT | c.2338_2339delAGinsCT | p.S780L | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121479984G>A | c.2339C>T | p.S780L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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