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Gene FGFR2
Variant S780D
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 S780D lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). S780D results in sustained Fgfr2 phosphorylation 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 S780D

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Transcript NM_000141.5
gDNA chr10:g.121479983_121479985delTCAinsGAC
cDNA c.2338_2340delTCAinsGAC
Protein p.S780D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.4 chr10:g.121479983_121479985delTCAinsGAC c.2338_2340delTCAinsGAC p.S780D RefSeq GRCh38/hg38
NM_001320658 chr10:g.121479978_121479979delCTinsTC c.2338_2339delAGinsGA p.S780D RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121479978_121479979delAGinsGA c.2338_2339delAGinsGA p.S780D RefSeq GRCh38/hg38
NM_000141 chr10:g.121479983_121479985delTGAinsGTC c.2338_2340delTCAinsGAC p.S780D RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121479983_121479985delTCAinsGAC c.2338_2340delTCAinsGAC p.S780D RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121479978_121479979delAGinsGA c.2338_2339delAGinsGA p.S780D RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries