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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

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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_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_001144919.1 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_001144914.1 chr10:g.121487992T>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 chr10:g.121487992T>G c.1649A>C p.N550T RefSeq GRCh38/hg38
NM_022970 chr10:g.121498521T>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_001144919 chr10:g.121488064T>G c.1649A>C p.N550T RefSeq GRCh38/hg38
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

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References