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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). | ||||||||||
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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 |