Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene CSF3R
Variant E524N
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions CSF3R E524N lies within fibronectin type-III domain 4 of the Csf3r protein (UniProt.org). E524N 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 E524N

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.

Transcript NM_000760.4
gDNA chr1:g.36469160_36469162delGAAinsAAC
cDNA c.1570_1572delGAAinsAAC
Protein p.E524N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011540749 chr1:g.36469160_36469162delTTCinsGTT c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
NM_000760.3 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
NM_172313.3 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
NM_172313.2 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
XM_005270493 chr1:g.36469160_36469162delTTCinsGTT c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
NM_000760 chr1:g.36469160_36469162delTTCinsGTT c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
NM_000760.4 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
XM_011540748 chr1:g.36469160_36469162delTTCinsGTT c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
NM_156039 chr1:g.36469160_36469162delTTCinsGTT c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
XM_017000370 chr1:g.36469160_36469162delTTCinsGTT c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
NM_156039.3 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
NM_172313 chr1:g.36469160_36469162delTTCinsGTT c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.36469160_36469162delGAAinsAAC c.1570_1572delGAAinsAAC p.E524N 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References