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Gene FGFR1
Variant D133E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 D133E lies within the extracellular domain of the Fgfr1 protein (UniProt.org). D133E has been identified in sequencing studies (PMID: 25148578), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 D133E

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Transcript NM_023110.3
gDNA chr8:g.38428395G>C
cDNA c.399C>G
Protein p.D133E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_015850.4 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001354370.2 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_017013224.2 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_047421574.1 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_023106.3 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001174065 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716303 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716314.2 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716306 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_015850.3 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716307.1 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716313 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716307.2 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716307 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001354367.1 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001354368.1 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001174065.1 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_023110 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001354370.1 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_017013225 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001174063 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001354368.2 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_017013225.3 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_017013223 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_017013222 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716314 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_017013221 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_015850 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001354369.1 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_017013225.2 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001354367.2 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716314.3 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_017013228 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_017013224 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_023106 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_006716304 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
XM_047421569.1 chr8:g.38428395G>C c.399C>G p.D133E RefSeq GRCh38/hg38
NM_023106.2 chr8:g.38426195G>C c.399C>G p.D133E RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR1 mutant Advanced Solid Tumor sensitive Pemigatinib Preclinical - Cell line xenograft Actionable In a preclinical study, a variety of cancer cell lines harboring mutations in FGFR1, FGFR2, and/or FGFR3 demonstrated sensitivity to Pemazyre (pemigatinib) in culture and in cell line xenograft models, resulting in inhibition of tumor growth (Cancer Res 2015;75(15 Suppl):Abstract nr 771). detail...
FGFR1 mutant Advanced Solid Tumor predicted - sensitive Debio 1347 Phase I Actionable In a Phase I trial, Debio 1347 treatment resulted in partial response in 10.5% (6/57) and stable disease in 28.1% (16/57) of patients with advanced solid tumors harboring genomic alterations of FGFR1/2/3, including amplifications, fusions, and mutations (PMID: 30745300; NCT01948297). 30745300
FGFR1 mutant Advanced Solid Tumor predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (MATCH), Balversa (erdafitinib) treatment resulted in an objective response rate of 16% (4/25), median progression-free survival of 3.6 months, and median overall survival of 11.0 months in patients with advanced solid tumors harboring FGFR1, FGFR2, or FGFR3 mutations or fusions (PMID: 38603650; NCT02465060). 38603650
FGFR1 mutant Advanced Solid Tumor predicted - sensitive ICP-192 Phase I Actionable In a Phase I trial, ICP-192 (gunagratinib) was well-tolerated, and resulted in an overall response rate or 33.3% (4/12, 1 complete response, 3 partial response) and a disease control rate of 91.7% (11/12) in patients with advanced solid tumors harboring FGF/FGFR gene aberrations (J Clin Oncol 39, 2021 (suppl 15; abstr 4092); NCT03758664). detail...
FGFR1 mutant transitional cell carcinoma predicted - sensitive Erdafitinib Phase II Actionable In a Phase II trial, Balversa (erdafitinib) treatment resulted in an objective response rate of 42% (40/96, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations (J Clin Oncol 36, 2018 (suppl; abstr 4503); NCT02365597). detail...