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Gene FGFR1
Variant C379R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR1 C379R (corresponds to C381R in the canonical isoform) lies within the transmembrane domain of the Fgfr1 protein (PMID: 26272615). C379R results in a gain of function, as demonstrated by constitutive Fgfr1 activity in a luciferase assay and increased Erk1/2 phosphorylation in cell culture (PMID: 26272615).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 act mut FGFR1 C379R

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Transcript NM_015850.4
gDNA chr8:g.38419676A>G
cDNA c.1135T>C
Protein p.C379R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017013225.2 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
NM_001354369.1 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
XM_006716306 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
NM_001354367.1 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
XM_006716307.1 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
XM_017013225 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
NM_015850.3 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
XM_017013223 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
XM_006716307 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
NM_015850 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
NM_001354367.2 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
NM_001174065.1 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
XM_017013224.2 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
XM_047421569.1 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
NM_001174065 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
NM_015850.4 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
XM_006716307.2 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
XM_017013224 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38
XM_017013225.3 chr8:g.38419676A>G c.1135T>C p.C379R RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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