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 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 2024).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 D165_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_38428400delGTCATC
cDNA c.493_498delGATGAC
Protein p.D165_D166delDD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017013231.2 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_006716314.3 chr8:g.38424674_38424679delCAGGAT c.493_498delATCCTG p.I165_L166delIL RefSeq GRCh38/hg38
XM_006716311.1 chr8:g.38424681_38424686delGGCCGG c.493_498delCGGCCC p.R165_P166delRP RefSeq GRCh38/hg38
XM_011544449.2 chr8:g.38426196_38426201delTCAGAG c.493_498delTCTGAC p.S165_D166delSD RefSeq GRCh38/hg38
XM_011544450.3 chr8:g.38426196_38426201delTCAGAG c.493_498delTCTGAC p.S165_D166delSD RefSeq GRCh38/hg38
NM_001174064.2 chr8:g.38428021_38428026delACTGTC c.494_499delCAGTGA p.T165_V166delTV RefSeq GRCh38/hg38
XM_011544446.3 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_011544451.1 chr8:g.38424656_38424661delGGCGGG c.493_498delCCCGCC p.P165_A166delPA RefSeq GRCh38/hg38
NM_015850.4 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38428044_38428049delATGCAA c.493_498delTTGCAT p.L165_H166delLH RefSeq GRCh38/hg38
XM_011544448.2 chr8:g.38426201_38426206delGGGCAC c.493_498delGTGCCC p.V165_P166delVP RefSeq GRCh38/hg38
XM_047421575.1 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_006716312.2 chr8:g.38424681_38424686delGGCCGG c.493_498delCGGCCC p.R165_P166delRP RefSeq GRCh38/hg38
XM_047421569.1 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_011544447.3 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
NM_023106.3 chr8:g.38424674_38424679delCAGGAT c.493_498delATCCTG p.I165_L166delIL RefSeq GRCh38/hg38
NM_001354367.2 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
NM_001354368.2 chr8:g.38424674_38424679delCAGGAT c.493_498delATCCTG p.I165_L166delIL RefSeq GRCh38/hg38
XM_011544445.3 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38428044_38428049delATGCAA c.493_498delTTGCAT p.L165_H166delLH RefSeq GRCh38/hg38
NM_001354370.2 chr8:g.38424674_38424679delCAGGAT c.493_498delATCCTG p.I165_L166delIL RefSeq GRCh38/hg38
XM_017013225.3 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
NM_001410922.1 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_017013227.2 chr8:g.38426196_38426201delTCAGAG c.493_498delTCTGAC p.S165_D166delSD RefSeq GRCh38/hg38
NM_001354369.2 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_047421576.1 chr8:g.38421936_38421941delAGCAGT c.493_498delACTGCT p.T165_A166delTA RefSeq GRCh38/hg38
XM_047421572.1 chr8:g.38426196_38426201delTCAGAG c.493_498delTCTGAC p.S165_D166delSD RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38428044_38428049delATGCAA c.493_498delTTGCAT p.L165_H166delLH RefSeq GRCh38/hg38
XM_047421573.1 chr8:g.38424681_38424686delGGCCGG c.493_498delCGGCCC p.R165_P166delRP RefSeq GRCh38/hg38
NM_001174067.2 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_006716310.4 chr8:g.38424681_38424686delGGCCGG c.493_498delCGGCCC p.R165_P166delRP RefSeq GRCh38/hg38
XM_024447097.1 chr8:g.38428021_38428026delACTGTC c.494_499delCAGTGA p.T165_V166delTV RefSeq GRCh38/hg38
NM_023105.3 chr8:g.38424681_38424686delGGCCGG c.493_498delCGGCCC p.R165_P166delRP RefSeq GRCh38/hg38
XM_017013219.2 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_017013220.2 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
XM_011544444.2 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
NM_001174066.2 chr8:g.38424681_38424686delGGCCGG c.493_498delCGGCCC p.R165_P166delRP RefSeq GRCh38/hg38
XM_017013226.2 chr8:g.38426201_38426206delGGGCAC c.493_498delGTGCCC p.V165_P166delVP RefSeq GRCh38/hg38
NM_001174065.2 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_047421574.1 chr8:g.38424674_38424679delCAGGAT c.493_498delATCCTG p.I165_L166delIL RefSeq GRCh38/hg38
XM_011544452.3 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166delDD RefSeq GRCh38/hg38
NM_001174067.1 chr8:g.38428395_38428400delGTCATC c.493_498delGATGAC p.D165_D166del RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38428044_38428049delATGCAA c.493_498delTTGCAT p.L165_H166delLH RefSeq GRCh38/hg38
XM_006716307.2 chr8:g.38428038_38428043delCACTGC c.493_498delGCAGTG p.A165_V166delAV RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38428044_38428049delATGCAA c.493_498delTTGCAT p.L165_H166delLH RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38428044_38428049delATGCAA c.493_498delTTGCAT p.L165_H166delLH 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 D165_D166del unknown