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 V406fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CSF3R V406fs results in a change in the amino acid sequence of the Csf3r protein beginning at aa 406 of 836, likely resulting in premature truncation of the functional protein (UniProt.org). Due to loss of the transmembrane and cytoplasmic domains (UniProt.org), V406fs is predicted to lead to a loss of Csf3r protein function.
Associated Drug Resistance
Category Variants Paths

CSF3R mutant CSF3R inact mut CSF3R V406fs

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.(36471502_36471503)
cDNA c.(1216_1215)
Protein p.V406fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_172313.3 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs RefSeq GRCh38/hg38
NM_172313.2 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs RefSeq GRCh38/hg38
NM_000760.4 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs RefSeq GRCh38/hg38
XM_047446753.1 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs RefSeq GRCh38/hg38
NM_156039.3 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs RefSeq GRCh38/hg38
XM_011540748.3 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs RefSeq GRCh38/hg38
NM_156039.3 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs RefSeq GRCh38/hg38
XM_017000370.1 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs RefSeq GRCh38/hg38
NM_000760.3 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs RefSeq GRCh38/hg38
XM_011540749.1 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs RefSeq GRCh38/hg38
XM_005270493.1 chr1:g.(36471502_36471503) c.(1216_1215) p.V406fs 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
CSF3R mutant bone marrow cancer not applicable N/A Clinical Study Emerging In clinical studies, high frequency of CSF3R mutations was identified in patients with chronic neutrophilic leukemia (PMID: 23656643, PMID: 24081659), suggesting that this may serve as a future diagnostic biomarker (PMID: 24441292). 24081659 23656643 24441292