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Gene | FGFR2 |
Variant | N550T |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 N550T (corresponds to N549T in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550T 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 N550T |
Transcript | NM_022970.4 |
gDNA | chr10:g.121498521T>G |
cDNA | c.1649A>C |
Protein | p.N550T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_022970.3 | chr10:g.121498521T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121498521T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
NM_001144919.1 | chr10:g.121488064T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121498521T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
NM_001144919 | chr10:g.121488064T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121498521T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
NM_001144919.2 | chr10:g.121488064T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121487992T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498521T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121487992T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498521T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
NM_001144914 | chr10:g.121487992T>G | c.1649A>C | p.N550T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 N550T | gain of function | FGFR Inhibitor (Pan) FGFR2 Inhibitor |