Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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, Jul 2024).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 D166del

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_001174067.2
gDNA chr8:g.38428395_38428397delGTC
cDNA c.496_498delGAC
Protein p.D166delD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354368.2 chr8:g.38424674_38424676delCAG c.497_499delTGC p.L166delL RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38428044_38428046delATG c.496_498delCAT p.H166delH RefSeq GRCh38/hg38
XM_017013226.2 chr8:g.38426201_38426203delGGG c.496_498delCCC p.P166delP RefSeq GRCh38/hg38
XM_011544452.3 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
NM_023105.3 chr8:g.38424680_38424682delGGG c.496_498delCCC p.P166delP RefSeq GRCh38/hg38
XM_017013231.2 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
XM_047421576.1 chr8:g.38421938_38421940delCAG c.497_499delCTG p.A166delA RefSeq GRCh38/hg38
XM_017013219.2 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
XM_024447097.1 chr8:g.38428020_38428022delCAC c.496_498delGTG p.V166delV RefSeq GRCh38/hg38
XM_006716310.4 chr8:g.38424680_38424682delGGG c.496_498delCCC p.P166delP RefSeq GRCh38/hg38
XM_011544447.3 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
XM_011544451.1 chr8:g.38424658_38424660delCGG c.496_498delGCC p.A166delA RefSeq GRCh38/hg38
XM_011544444.2 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
NM_023106.3 chr8:g.38424674_38424676delCAG c.497_499delTGC p.L166delL RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38424680_38424682delGGG c.496_498delCCC p.P166delP RefSeq GRCh38/hg38
XM_017013220.2 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
NM_001174067 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166del RefSeq GRCh38/hg38
XM_017013227.2 chr8:g.38426195_38426197delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
NM_001174066.2 chr8:g.38424680_38424682delGGG c.496_498delCCC p.P166delP RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38428044_38428046delATG c.496_498delCAT p.H166delH RefSeq GRCh38/hg38
XM_006716314.3 chr8:g.38424674_38424676delCAG c.497_499delTGC p.L166delL RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38428038_38428040delCAC c.496_498delGTG p.V166delV RefSeq GRCh38/hg38
XM_011544448.2 chr8:g.38426201_38426203delGGG c.496_498delCCC p.P166delP RefSeq GRCh38/hg38
NM_001354367.2 chr8:g.38428038_38428040delCAC c.496_498delGTG p.V166delV RefSeq GRCh38/hg38
XM_011544445.3 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
XM_047421572.1 chr8:g.38426195_38426197delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
XM_011544450.3 chr8:g.38426195_38426197delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38428044_38428046delATG c.496_498delCAT p.H166delH RefSeq GRCh38/hg38
XM_047421569.1 chr8:g.38428038_38428040delCAC c.496_498delGTG p.V166delV RefSeq GRCh38/hg38
NM_001354370.2 chr8:g.38424674_38424676delCAG c.497_499delTGC p.L166delL RefSeq GRCh38/hg38
XM_047421573.1 chr8:g.38424680_38424682delGGG c.496_498delCCC p.P166delP RefSeq GRCh38/hg38
XM_011544446.3 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
XM_047421575.1 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
NM_001174067.2 chr8:g.38428395_38428397delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38428044_38428046delATG c.496_498delCAT p.H166delH RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38428038_38428040delCAC c.496_498delGTG p.V166delV RefSeq GRCh38/hg38
XM_011544449.2 chr8:g.38426195_38426197delGTC c.496_498delGAC p.D166delD RefSeq GRCh38/hg38
XM_047421574.1 chr8:g.38424674_38424676delCAG c.497_499delTGC p.L166delL RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38428044_38428046delATG c.496_498delCAT p.H166delH RefSeq GRCh38/hg38
XM_017013225.3 chr8:g.38428038_38428040delCAC c.496_498delGTG p.V166delV RefSeq GRCh38/hg38
NM_015850.4 chr8:g.38428038_38428040delCAC c.496_498delGTG p.V166delV RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38424680_38424682delGGG c.496_498delCCC p.P166delP RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38428044_38428046delATG c.496_498delCAT p.H166delH RefSeq GRCh38/hg38
NM_001174064.2 chr8:g.38428020_38428022delCAC c.496_498delGTG p.V166delV RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38428038_38428040delCAC c.496_498delGTG p.V166delV RefSeq GRCh38/hg38
XM_006716307.2 chr8:g.38428038_38428040delCAC c.496_498delGTG p.V166delV RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
FGFR1 D166del unknown