CSF1R I794T
Gene Variant Detail

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Gene CSF1R
Variant I794T
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CSF1R I794T lies within the protein kinase domain of the Csf1r protein (UniProt.org). I794T results in transcription and stability of Csf1r similar to wild-type Csf1r, but results in decreased expression of the C-terminal fragment, ectodomain, and full length Csf1r (PMID: 33783963) and loss of Csf1r autophosphorylation in culture (PMID: 33783963, PMID: 36943150, PMID: 31827782 ), and therefore, is predicted to lead to a loss of Csf1r protein function.
Associated Drug Resistance
Category Variants Paths

CSF1R mutant CSF1R I794T

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Transcript NM_001288705.3
gDNA chr5:g.150056280A>G
cDNA c.2381T>C
Protein p.I794T
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
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