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