CSF1R W450_E456del
Gene Variant Detail

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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

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Transcript NM_001288705.3
gDNA chr5:g.150070015_150070035del21
cDNA c.1348_1368del21
Protein p.W450_E456delWDDPYPE
Source Database RefSeq
Genome Build 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.