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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 |
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 |
---|---|---|---|---|---|
NM_001174065.2 | chr8:g.38428038_38428043delCACTGC | c.493_498delGCAGTG | p.A165_V166delAV | RefSeq | GRCh38/hg38 |
NM_023105.3 | chr8:g.38424681_38424686delGGCCGG | c.493_498delCGGCCC | p.R165_P166delRP | RefSeq | GRCh38/hg38 |
NM_001354368.2 | chr8:g.38424674_38424679delCAGGAT | c.493_498delATCCTG | p.I165_L166delIL | RefSeq | GRCh38/hg38 |
XM_017013225.3 | chr8:g.38428038_38428043delCACTGC | c.493_498delGCAGTG | p.A165_V166delAV | RefSeq | GRCh38/hg38 |
XM_017013231.2 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166delDD | RefSeq | GRCh38/hg38 |
XM_006716312.2 | chr8:g.38424681_38424686delGGCCGG | c.493_498delCGGCCC | p.R165_P166delRP | RefSeq | GRCh38/hg38 |
XM_047421575.1 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166delDD | RefSeq | GRCh38/hg38 |
NM_023110.3 | chr8:g.38428044_38428049delATGCAA | c.493_498delTTGCAT | p.L165_H166delLH | RefSeq | GRCh38/hg38 |
NM_015850.4 | chr8:g.38428038_38428043delCACTGC | c.493_498delGCAGTG | p.A165_V166delAV | RefSeq | GRCh38/hg38 |
XM_006716311.1 | chr8:g.38424681_38424686delGGCCGG | c.493_498delCGGCCC | p.R165_P166delRP | RefSeq | GRCh38/hg38 |
XM_006716310.4 | chr8:g.38424681_38424686delGGCCGG | c.493_498delCGGCCC | p.R165_P166delRP | RefSeq | GRCh38/hg38 |
NM_001354369.2 | chr8:g.38428038_38428043delCACTGC | c.493_498delGCAGTG | p.A165_V166delAV | RefSeq | GRCh38/hg38 |
XM_006716303.4 | chr8:g.38428044_38428049delATGCAA | c.493_498delTTGCAT | p.L165_H166delLH | RefSeq | GRCh38/hg38 |
XM_047421576.1 | chr8:g.38421936_38421941delAGCAGT | c.493_498delACTGCT | p.T165_A166delTA | RefSeq | GRCh38/hg38 |
XM_011544450.3 | chr8:g.38426196_38426201delTCAGAG | c.493_498delTCTGAC | p.S165_D166delSD | RefSeq | GRCh38/hg38 |
XM_011544448.2 | chr8:g.38426201_38426206delGGGCAC | c.493_498delGTGCCC | p.V165_P166delVP | RefSeq | GRCh38/hg38 |
NM_001174067.1 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166del | RefSeq | GRCh38/hg38 |
XM_047421574.1 | chr8:g.38424674_38424679delCAGGAT | c.493_498delATCCTG | p.I165_L166delIL | RefSeq | GRCh38/hg38 |
XM_047421570.1 | chr8:g.38428044_38428049delATGCAA | c.493_498delTTGCAT | p.L165_H166delLH | RefSeq | GRCh38/hg38 |
XM_006716304.2 | chr8:g.38428044_38428049delATGCAA | c.493_498delTTGCAT | p.L165_H166delLH | RefSeq | GRCh38/hg38 |
XM_011544449.2 | chr8:g.38426196_38426201delTCAGAG | c.493_498delTCTGAC | p.S165_D166delSD | RefSeq | GRCh38/hg38 |
NM_001174066.2 | chr8:g.38424681_38424686delGGCCGG | c.493_498delCGGCCC | p.R165_P166delRP | RefSeq | GRCh38/hg38 |
XM_017013220.2 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166delDD | RefSeq | GRCh38/hg38 |
XM_011544445.3 | 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_001174067.2 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166delDD | RefSeq | GRCh38/hg38 |
XM_047421573.1 | chr8:g.38424681_38424686delGGCCGG | c.493_498delCGGCCC | p.R165_P166delRP | RefSeq | GRCh38/hg38 |
XM_006716314.3 | chr8:g.38424674_38424679delCAGGAT | c.493_498delATCCTG | p.I165_L166delIL | RefSeq | GRCh38/hg38 |
XM_011544447.3 | 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 |
NM_023106.3 | 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_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 |
NM_001354370.2 | chr8:g.38424674_38424679delCAGGAT | c.493_498delATCCTG | p.I165_L166delIL | RefSeq | GRCh38/hg38 |
XM_047421572.1 | chr8:g.38426196_38426201delTCAGAG | c.493_498delTCTGAC | p.S165_D166delSD | RefSeq | GRCh38/hg38 |
XM_011544444.2 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166delDD | RefSeq | GRCh38/hg38 |
XM_017013226.2 | chr8:g.38426201_38426206delGGGCAC | c.493_498delGTGCCC | p.V165_P166delVP | RefSeq | GRCh38/hg38 |
NM_001174063.2 | chr8:g.38428044_38428049delATGCAA | c.493_498delTTGCAT | p.L165_H166delLH | RefSeq | GRCh38/hg38 |
NM_001354367.2 | chr8:g.38428038_38428043delCACTGC | c.493_498delGCAGTG | p.A165_V166delAV | RefSeq | GRCh38/hg38 |
XM_047421569.1 | chr8:g.38428038_38428043delCACTGC | c.493_498delGCAGTG | p.A165_V166delAV | RefSeq | GRCh38/hg38 |
XM_017013219.2 | 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 |
XM_006716307.2 | chr8:g.38428038_38428043delCACTGC | c.493_498delGCAGTG | p.A165_V166delAV | RefSeq | GRCh38/hg38 |
NM_001174064.2 | chr8:g.38428021_38428026delACTGTC | c.494_499delCAGTGA | p.T165_V166delTV | RefSeq | GRCh38/hg38 |
XM_024447097.1 | chr8:g.38428021_38428026delACTGTC | c.494_499delCAGTGA | p.T165_V166delTV | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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