FGFR1 C381R
Gene Variant Detail

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Gene FGFR1
Variant C381R
Impact List missense
Protein Effect gain of function
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), increased proliferation and anchorage-independent colony formation in culture (PMID: 40526877), 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).
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_006716304 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_006716303.3 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_017013221.1 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_017013221 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
XM_006716303 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
NM_023110.2 chr8:g.38419676A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
XM_017013222.2 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
XM_006716304.1 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
NM_023110 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_001174064.2 chr8:g.38419652A>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_001174063 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_024447097.1 chr8:g.38419652A>G c.1141T>C p.C381R RefSeq GRCh38/hg38
NM_001174064.1 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
NM_001174063.1 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

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  • 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
FGFR1 C381R Advanced Solid Tumor sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, Balversa (erdafitinib) inhibited colony formation and viability in cells expressing FGFR1 C381R in culture (PMID: 40526877). 40526877
FGFR1 C381R Advanced Solid Tumor sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) inhibited viability of cells expressing FGFR1 C381R in culture (PMID: 40526877). 40526877
FGFR1 C381R Advanced Solid Tumor sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, Pemazyre (pemigatinib) inhibited viability of cells expressing FGFR1 C381R in culture (PMID: 40526877). 40526877
FGFR1 C381R Advanced Solid Tumor sensitive Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, Fexagratinib (AZD4547) inhibited viability of cells expressing FGFR1 C381R in culture (PMID: 40526877). 40526877