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FGFR1 D166del - Gene Variant Detail

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Gene FGFR1
Variant D166del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions FGFR1 D166del (corresponds to D133del in the canonical isoform) results in the deletion of an amino acid in the extracellular domain of the Fgfr1 protein at amino acid 166 (UniProt.org). D166del has been identified in the scientific literature (PMID: 30239046, PMID: 29030356, PMID: 33033274), but has not been biochemically characterized and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Feb 2025).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 D166del

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Transcript NM_001174067.2
gDNA chr8:g.38428395_38428397delGTC
cDNA c.496_498delGAC
Protein p.D166del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011544452.3 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166del RefSeq GRCh38/hg38
XM_047421575.1 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166del RefSeq GRCh38/hg38
NM_001174067 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166del RefSeq GRCh38/hg38
XM_017013219.2 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166del RefSeq GRCh38/hg38
XM_017013231.2 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166del RefSeq GRCh38/hg38
XM_011544444.2 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166del RefSeq GRCh38/hg38
XM_011544446.3 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166del RefSeq GRCh38/hg38
NM_001174067.2 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166del RefSeq GRCh38/hg38
XM_011544445.3 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166del RefSeq GRCh38/hg38
XM_017013220.2 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166del RefSeq GRCh38/hg38
XM_011544447.3 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166del RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References