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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, Jan 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_D166delDD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |