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CSF3R E524A - Gene Variant Detail

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Gene CSF3R
Variant E524A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions CSF3R E524A lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E524A results in G-CSF-independent cell growth and survival in culture (PMID: 29572350), and therefore, is predicted to lead to a gain of Csf3r protein function.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R act mut CSF3R E524A

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Transcript NM_000760.4
gDNA chr1:g.36469161T>G
cDNA c.1571A>C
Protein p.E524A
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.