Gene Variant Detail

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Gene CSF3R
Variant K705A
Impact List missense
Protein Effect no effect
Gene Variant Descriptions CSF3R K705A lies within the cytoplasmic domain of the Csf3r protein (UniProt.org). K705A results in cell surface Csf3r expression, Stat5 activation, and receptor ubiquitination similar to wild-type, and is not transforming in cell culture (PMID: 28439110), and therefore, has no effect on Csf3r protein function.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R K705A

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Transcript NM_000760.4
gDNA chr1:g.36466754_36466755delAAinsGC
cDNA c.2113_2114delAAinsGC
Protein p.K705A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000760 chr1:g.36466754_36466755delTTinsGC c.2113_2114delAAinsGC p.K705A RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36466754_36466755delAAinsGC c.2113_2114delAAinsGC p.K705A RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36466754_36466755delAAinsGC c.2113_2114delAAinsGC p.K705A RefSeq GRCh38/hg38
NM_172313 chr1:g.36466754_36466755delTTinsGC c.2113_2114delAAinsGC p.K705A RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36466754_36466755delAAinsGC c.2113_2114delAAinsGC p.K705A RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36466754_36466755delAAinsGC c.2113_2114delAAinsGC p.K705A 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
CSF3R K705A no effect