CSF1R W450_E456del
Gene Variant Detail

Request Content

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 CSF1R
Variant W450_E456del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions CSF1R W450_E456del results in a deletion of seven amino acids within the Ig-like C2 type domain 5 of the Csf1r protein (UniProt.org). W450_E456del confers a gain of function to the Csf1r protein, resulting in cytokine-independent cell growth and increased Mek/Erk signaling in culture (PMID: 31768065).
Associated Drug Resistance
Category Variants Paths

CSF1R mutant CSF1R act mut CSF1R W450_E456del

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_001288705.3
gDNA chr5:g.150070015_150070035del21
cDNA c.1348_1368del21
Protein p.W450_E456delWDDPYPE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001349736.1 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_001375321.1 chr5:g.150061539_150061559del21 c.1349_1369del21 p.E450_L456delEATAFGL RefSeq GRCh38/hg38
NM_001288705.3 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_005211.3 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_001288705.2 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_001375320.1 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_005211.4 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_001349736.2 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_005211 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE RefSeq GRCh38/hg38
NM_001288705 chr5:g.150070015_150070035del21 c.1348_1368del21 p.W450_E456delWDDPYPE 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries