CSF1R D802V
Gene Variant Detail

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Gene CSF1R
Variant D802V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CSF1R D802V lies within the protein kinase domain of the Csf1r protein (UniProt.org). D802V confers a gain of function as demonstrated by increased stability of the Csf1r protein and the ability to transform cells in cultrue (PMID: 10340379, PMID: 18971950).
Associated Drug Resistance
Category Variants Paths

CSF1R mutant CSF1R act mut CSF1R D802V

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Transcript NM_001288705.3
gDNA chr5:g.150056256T>A
cDNA c.2405A>T
Protein p.D802V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005211 chr5:g.150056256T>A c.2405A>T p.D802V RefSeq GRCh38/hg38
NM_001375320.1 chr5:g.150056256T>A c.2405A>T p.D802V RefSeq GRCh38/hg38
NM_001288705.2 chr5:g.150056256T>A c.2405A>T p.D802V RefSeq GRCh38/hg38
NM_005211.4 chr5:g.150056256T>A c.2405A>T p.D802V RefSeq GRCh38/hg38
NM_001288705.3 chr5:g.150056256T>A c.2405A>T p.D802V RefSeq GRCh38/hg38
NM_005211.3 chr5:g.150056256T>A c.2405A>T p.D802V RefSeq GRCh38/hg38
NM_001288705 chr5:g.150056256T>A c.2405A>T p.D802V RefSeq GRCh38/hg38
NM_001349736.2 chr5:g.150056256T>A c.2405A>T p.D802V RefSeq GRCh38/hg38
NM_001349736.1 chr5:g.150056256T>A c.2405A>T p.D802V 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.
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries