Gene 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@jax.org

Gene Symbol POLE
Synonyms CRCS12 | FILS | IMAGEI | POLE1
Gene Description POLE, DNA polymerase epsilon catalytic subunit, mediates proofreading activity during DNA repair and replication (PMID: 26822575, PMID: 29604063) and plays a role in genomic stability (PMID: 31747945). Somatic mutations in POLE have been identified in colorectal cancer (PMID: 29998005, PMID: 29072370), frequently in endometrial cancer (PMID: 26822575, PMID: 28795426, PMID: 30733993), and are often associated with high tumor mutational burden (PMID: 30733993, PMID: 29880869), but are less likely to be associated with DNA mismatch repair (MMR) deficiency (PMID: 30585826).

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
POLE A426V unknown
POLE A456P unknown
POLE A456T unknown
POLE A463V unknown
POLE A629D unknown
POLE C333S unknown
POLE D275A unknown
POLE D301N unknown
POLE D368N loss of function - predicted
POLE D435G unknown
POLE E1888K unknown
POLE E18K unknown
POLE E265K unknown
POLE E277A unknown
POLE E277Q unknown
POLE E277V unknown
POLE E396G unknown
POLE E790Q unknown
POLE E978Gfs*6 loss of function - predicted
POLE F2251L unknown
POLE F285L unknown
POLE F285S unknown
POLE F367C unknown
POLE F367L unknown
POLE F367S loss of function
POLE F876V unknown
POLE G1262* loss of function
POLE G330R unknown
POLE G433D unknown
POLE G6R unknown
POLE H475R unknown
POLE inact mut loss of function
POLE K425R loss of function - predicted
POLE K429R unknown
POLE L424I loss of function - predicted
POLE L424P unknown
POLE L424V loss of function
POLE L455Q unknown
POLE M294R loss of function - predicted
POLE M444K unknown
POLE M487V unknown
POLE mutant unknown
CD274 pos POLE mut
POLE N251I unknown
POLE N363K loss of function - predicted
POLE P269fs loss of function - predicted
POLE P286H loss of function
POLE P286L loss of function - predicted
POLE P286R loss of function
POLE P286S unknown
POLE P286T unknown
POLE P324L loss of function - predicted
POLE P436R loss of function - predicted
POLE P436S loss of function - predicted
POLE P441L unknown
POLE P476L unknown
POLE P68A unknown
POLE Q2217* unknown
POLE Q303R unknown
POLE R114* loss of function - predicted
CD274 pos POLE R114* POLE V411L
POLE R1436Q unknown
POLE R1508H unknown
POLE R1519C unknown
POLE R1519H unknown
POLE R1519L unknown
POLE R34L unknown
CD274 over exp POLE R34L
POLE R446Q unknown
POLE R446W unknown
POLE R47W unknown
POLE R52W unknown
POLE S1353G unknown
POLE S1892N unknown
POLE S297A unknown
POLE S297F unknown
POLE S297Y unknown
POLE S459F loss of function
POLE S459Y unknown
POLE S461P loss of function - predicted
POLE T278K unknown
POLE T278P unknown
POLE T278S unknown
POLE T279A unknown
POLE T323A unknown
POLE T457L unknown
POLE T457M unknown
POLE V1426I unknown
POLE V411L loss of function - predicted
POLE V411M unknown
POLE V411R unknown
POLE V464A unknown
POLE V533M unknown
POLE W410* loss of function - predicted
POLE W775G unknown
POLE wild-type no effect
POLE Y434N unknown