Gene Variant Detail

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Gene FGFR1
Variant T695A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR1 T695A lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). T695A results in increased transformation ability in one of two different cell lines as compared to wild-type Fgfr1 in cultured cells (PMID: 29533785), and therefore, is predicted to lead to a gain of Fgfr1 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 act mut FGFR1 T695A

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Transcript NM_023110.3
gDNA chr8:g.38414255T>C
cDNA c.2083A>G
Protein p.T695A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006716303.3 chr8:g.38414255T>C c.2083A>G p.T695A RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38414255T>C c.2083A>G p.T695A RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38414255T>C c.2083A>G p.T695A RefSeq GRCh38/hg38
XM_006716304 chr8:g.38414255T>C c.2083A>G p.T695A RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38414255T>C c.2083A>G p.T695A RefSeq GRCh38/hg38
NM_023110 chr8:g.38414255T>C c.2083A>G p.T695A RefSeq GRCh38/hg38
XM_006716303 chr8:g.38414255T>C c.2083A>G p.T695A RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38414255T>C c.2083A>G p.T695A RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38414255T>C c.2083A>G p.T695A RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38414255T>C c.2083A>G p.T695A RefSeq GRCh38/hg38
XM_017013221 chr8:g.38414255T>C c.2083A>G p.T695A RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38414255T>C c.2083A>G p.T695A RefSeq GRCh38/hg38

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