Gene Variant Detail

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Gene FGFR1
Variant V664L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FGFR1 V664L lies within the protein kinase domain of the Fgfr1 protein (UniProt.org). V664L results in decreased proliferation relative to wild-type Fgfr1 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr1 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 inact mut FGFR1 V664L

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Transcript NM_023110.3
gDNA chr8:g.38414617C>G
cDNA c.1990G>C
Protein p.V664L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006716303 chr8:g.38414617C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_011544443 chr8:g.38414865C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38414617C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_011544446.3 chr8:g.38414865C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38414617C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
NM_023110 chr8:g.38414617C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38414617C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38414617C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38414617C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38414617C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_011544446.2 chr8:g.38414865C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_017013221 chr8:g.38414617C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_011544446 chr8:g.38414865C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38414617C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_011544443.2 chr8:g.38414865C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_006716304 chr8:g.38414617C>G c.1990G>C p.V664L RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38414617C>G c.1990G>C p.V664L RefSeq GRCh38/hg38

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