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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 2025). |
| 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_D166del |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017013220.2 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166del | RefSeq | GRCh38/hg38 |
| XM_047421575.1 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166del | RefSeq | GRCh38/hg38 |
| NM_001174067.1 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166del | RefSeq | GRCh38/hg38 |
| XM_011544452.3 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166del | RefSeq | GRCh38/hg38 |
| XM_011544445.3 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166del | RefSeq | GRCh38/hg38 |
| XM_011544446.3 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166del | RefSeq | GRCh38/hg38 |
| XM_017013219.2 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166del | RefSeq | GRCh38/hg38 |
| XM_011544447.3 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166del | RefSeq | GRCh38/hg38 |
| XM_011544444.2 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166del | RefSeq | GRCh38/hg38 |
| NM_001174067.2 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166del | RefSeq | GRCh38/hg38 |
| XM_017013231.2 | chr8:g.38428395_38428400delGTCATC | c.493_498delGATGAC | p.D165_D166del | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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