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FGFR1 E138* - Gene Variant Detail

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Gene FGFR1
Variant E138*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions FGFR1 E138* results in a premature truncation of the Fgfr1 protein at amino acid 138 of 822 (UniProt.org). E138* results in a loss of multiple functional domains (UniProt.org), but also results in similar cell proliferation and viability compared to wild-type Fgfr1 in culture (PMID: 29533785), and therefore, its effect on Fgfr1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 E138*

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Transcript NM_023110.3
gDNA chr8:g.38428382C>A
cDNA c.412G>T
Protein p.E138*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_015850.3 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013229 chr8:g.38418274C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_006716307.1 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013230 chr8:g.38418274C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_006716303 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013225 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_006716304 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013224.2 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_023110 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_011544451.1 chr8:g.38426164C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_047421569.1 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013222 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013227.2 chr8:g.38427956C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013224 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_006716307.2 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013229.2 chr8:g.38418274C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_011544451.1 chr8:g.38426164C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_001354367.2 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_001174063 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_015850 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013223 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013230.1 chr8:g.38418274C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_006716306 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013221 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_011544449 chr8:g.38427956C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013225.2 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_011544450.2 chr8:g.38427956C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_011544449.2 chr8:g.38427956C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_001174065 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_011544450 chr8:g.38427956C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013225.3 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_011544451 chr8:g.38426164C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013227 chr8:g.38427956C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_017013227.1 chr8:g.38427956C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_047421572.1 chr8:g.38427956C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_015850.4 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_001174065.1 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_011544450.3 chr8:g.38427956C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_011544449.1 chr8:g.38427956C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_001354369.1 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
NM_001354367.1 chr8:g.38428382C>A c.412G>T p.E138* RefSeq GRCh38/hg38
XM_006716307 chr8:g.38428382C>A c.412G>T p.E138* 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 predicted - sensitive Zoligratinib 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 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...
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 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...