Gene Variant Detail

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Gene FGFR1
Variant C381R
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR1 C381R lies within the transmembrane domain of the Fgfr1 protein (UniProt.org). C381R is associated with increased phospho-Erk1/2 staining in a patient tumor sample (PMID: 30385747), and the corresponding variant in an alternate isoform (C379R) demonstrates constitutive Fgfr1 activity in a luciferase assay and increased Erk1/2 phosphorylation in cell culture (PMID: 26272615), and therefore, is predicted to lead to a gain of Fgfr1 function.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 act mut FGFR1 C381R

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Transcript NM_023110.3
gDNA chr8:g.38419676A>G
cDNA c.1141T>C
Protein p.C381R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017013221 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_006716303 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_006716304 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_024447097.1 chr8:g.38419652A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_024447097.1 chr8:g.38419652A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_017013222 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_023110 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_001174063 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_001174064.1 chr8:g.38419652A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_006716309 chr8:g.38419652A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_001174064.2 chr8:g.38419652A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_001174064 chr8:g.38419652A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38

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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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References