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Gene | FGFR2 |
Variant | N550S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 N550S lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550S results in increased Fgfr2 kinase activity and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 N550S |
Transcript | NM_022970.4 |
gDNA | chr10:g.121498521T>C |
cDNA | c.1649A>G |
Protein | p.N550S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144914 | chr10:g.121487992T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498521T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121498521T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121487992T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121498521T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144919.2 | chr10:g.121488064T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121498521T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498521T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121487992T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144919 | chr10:g.121488064T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121498521T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
NM_001144919.1 | chr10:g.121488064T>C | c.1649A>G | p.N550S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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