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 POLE
Variant C333S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions POLE C333S lies within the exonuclease domain of the Pole protein (PMID: 29352080). C333S has been identified in the scientific literature (PMID: 35817971), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

POLE mutant POLE C333S

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_006231.4
gDNA chr12:g.132676117A>T
cDNA c.997T>A
Protein p.C333S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006231.4 chr12:g.132676117A>T c.997T>A p.C333S RefSeq GRCh38/hg38
XM_047429018.1 chr12:g.132676117A>T c.997T>A p.C333S RefSeq GRCh38/hg38
NM_006231.3 chr12:g.132676117A>T c.997T>A p.C333S RefSeq GRCh38/hg38
XM_011534795.4 chr12:g.132676117A>T c.997T>A p.C333S RefSeq GRCh38/hg38
XM_011534799.2 chr12:g.132676117A>T c.997T>A p.C333S RefSeq GRCh38/hg38
XM_011534799.3 chr12:g.132676117A>T c.997T>A p.C333S RefSeq GRCh38/hg38
XM_011534795.3 chr12:g.132676117A>T c.997T>A p.C333S 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