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Gene FGFR1
Variant D165_D166del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions FGFR1 D165_D166del (corresponds to D132_D133del in the canonical isoform) results in the deletion of two amino acids in the extracellular domain of the Fgfr1 protein from amino acids 165 to 166 (UniProt.org). D165_D166del has been identified in sequencing studies (PMID: 36142267), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 D165_D166del

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Transcript NM_001174067.2
gDNA chr8:g.38428395_38428400delGTCATC
cDNA c.493_498delGATGAC
Protein p.D165_D166delDD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017013226.2 chr8:g.38426201_38426206delGGGCAC c.493_498delGTGCCC p.V165_P166delVP RefSeq GRCh38/hg38
NM_001174066.2 chr8:g.38424681_38424686delGGCCGG c.493_498delCGGCCC p.R165_P166delRP RefSeq GRCh38/hg38
NM_023106.3 chr8:g.38424674_38424679delCAGGAT c.493_498delATCCTG p.I165_L166delIL RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_047421574.1 chr8:g.38424674_38424679delCAGGAT c.493_498delATCCTG p.I165_L166delIL RefSeq GRCh38/hg38
XM_047421575.1 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_017013231.2 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_011544446.3 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_006716310.4 chr8:g.38424681_38424686delGGCCGG c.493_498delCGGCCC p.R165_P166delRP RefSeq GRCh38/hg38
XM_017013219.2 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
NM_001354368.2 chr8:g.38424674_38424679delCAGGAT c.493_498delATCCTG p.I165_L166delIL RefSeq GRCh38/hg38
XM_011544449.2 chr8:g.38426196_38426201delTCAGAG c.493_498delTCTGAC p.S165_D166delSD RefSeq GRCh38/hg38
NM_023105.3 chr8:g.38424681_38424686delGGCCGG c.493_498delCGGCCC p.R165_P166delRP RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38424681_38424686delGGCCGG c.493_498delCGGCCC p.R165_P166delRP RefSeq GRCh38/hg38
XM_011544450.3 chr8:g.38426196_38426201delTCAGAG c.493_498delTCTGAC p.S165_D166delSD RefSeq GRCh38/hg38
XM_011544447.3 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_011544444.2 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_017013225.3 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_006716307.2 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38424681_38424686delGGCCGG c.493_498delCGGCCC p.R165_P166delRP RefSeq GRCh38/hg38
XM_047421569.1 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38428044_38428049delATGCAA c.493_498delTTGCAT p.L165_H166delLH RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38428044_38428049delATGCAA c.493_498delTTGCAT p.L165_H166delLH RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38428044_38428049delATGCAA c.493_498delTTGCAT p.L165_H166delLH RefSeq GRCh38/hg38
NM_001174067.1 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166del RefSeq GRCh38/hg38
XM_006716314.3 chr8:g.38424674_38424679delCAGGAT c.493_498delATCCTG p.I165_L166delIL RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38428044_38428049delATGCAA c.493_498delTTGCAT p.L165_H166delLH RefSeq GRCh38/hg38
XM_047421572.1 chr8:g.38426196_38426201delTCAGAG c.493_498delTCTGAC p.S165_D166delSD RefSeq GRCh38/hg38
NM_001354367.2 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38428044_38428049delATGCAA c.493_498delTTGCAT p.L165_H166delLH RefSeq GRCh38/hg38
XM_011544451.1 chr8:g.38424656_38424661delGGCGGG c.493_498delCCCGCC p.P165_A166delPA RefSeq GRCh38/hg38
XM_047421573.1 chr8:g.38424681_38424686delGGCCGG c.493_498delCGGCCC p.R165_P166delRP RefSeq GRCh38/hg38
XM_047421576.1 chr8:g.38421936_38421941delAGCAGT c.493_498delACTGCT p.T165_A166delTA RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38428044_38428049delATGCAA c.493_498delTTGCAT p.L165_H166delLH RefSeq GRCh38/hg38
XM_017013220.2 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_017013227.2 chr8:g.38426196_38426201delTCAGAG c.493_498delTCTGAC p.S165_D166delSD RefSeq GRCh38/hg38
NM_001354370.2 chr8:g.38424674_38424679delCAGGAT c.493_498delATCCTG p.I165_L166delIL RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_011544448.2 chr8:g.38426201_38426206delGGGCAC c.493_498delGTGCCC p.V165_P166delVP RefSeq GRCh38/hg38
XM_024447097.1 chr8:g.38428021_38428026delACTGTC c.494_499delCAGTGA p.T165_V166delTV RefSeq GRCh38/hg38
NM_001174064.2 chr8:g.38428021_38428026delACTGTC c.494_499delCAGTGA p.T165_V166delTV RefSeq GRCh38/hg38
NM_001174067.2 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_011544452.3 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
NM_015850.4 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_011544445.3 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD 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 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 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 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 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