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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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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A456P missense unknown POLE A456P lies within the exonuclease domain of the Pole protein (PMID: 29352080). A456P has been identified in sequencing studies (PMID: 25224212, PMID: 25124163, PMID: 31624068), but has not been biochemically characterized, and therefore its effect on Pole protein function is unknown (PubMed, Mar 2020).
D275A missense unknown POLE D275A lies within the exonuclease domain of the Pole protein (PMID: 29352080). D275A results in increased nucleotide error rates in combination with E277A compared to wild-type Pole (PMID: 29488881, PMID: 29559562), but has not been individually characterized and therefore, its effect on Pole protein function is unknown.
E277A missense unknown POLE E277A lies within the exonuclease domain of the Pole protein (PMID: 29352080). E277A results in increased nucleotide error rates in combination with D275A compared to wild-type Pole (PMID: 29488881, PMID: 29559562), but has not been individually characterized and therefore, its effect on Pole protein function is unknown.
E396G missense unknown POLE E396G lies within the exonuclease domain of the Pole protein (PMID: 29352080). E396G has been identified in the scientific literature (PMID: 26763250), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
F2251L missense unknown POLE F2251L does not lie within any known functional domains of the Pole protein (UniProt.org). F2251L has been identified in the scientific literature (PMID: 32098697), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
F367C missense unknown POLE F367C lies within the exonuclease domain of the Pole protein (PMID: 29352080). F367C has been identified in the scientific literature (PMID: 26763250, PMID: 31240875), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
F367L missense unknown POLE F367L lies within the exonuclease domain of the Pole protein (PMID: 29352080). F367L has been identified in the scientific literature (PMID: 26763250, PMID: 28061006), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
F367S missense loss of function POLE F367S lies within the exonuclease domain of the Pole protein (PMID: 29352080). F367S results in reduced exonuclease activity and increased replication error rates compared to wild-type Pole in in vitro assays (PMID: 29352080, PMID: 25228659).
inact mut unknown loss of function POLE inact mut indicates that this variant results in a loss of function of the Pole protein. However, the specific amino acid change has not been identified.
L424I missense loss of function - predicted POLE L424I lies within the exonuclease domain of the Pole protein (PMID: 29352080). L424I results in reduced exonuclease activity in an in vitro assay (PMID: 29056344), and therefore, is predicted to lead to a loss of Pole protein function.
L424P missense unknown POLE L424P lies within the exonuclease domain of the Pole protein (PMID: 29352080). L424P has been identified in the scientific literature (PMID: 26763250), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
L424V missense loss of function - predicted POLE L424V lies within the exonuclease domain of the Pole protein (PMID: 29352080). L424V results in reduced exonuclease activity in an in vitro assay (PMID: 29056344), and therefore, is predicted to lead to a loss of Pole protein function.
mutant unknown unknown POLE mutant indicates an unspecified mutation in the POLE gene.
N363K missense unknown POLE N363K lies within the exonuclease domain of the Pole protein (PMID: 29352080). N363K has been identified in the scientific literature (PMID: 30368636), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
P286H missense loss of function POLE P286H lies within the exonuclease domain of the Pole protein (PMID: 29352080). P286H results in reduced exonuclease activity and increased replication error rates compared to wild-type Pole in in vitro assays (PMID: 29352080, PMID: 25228659).
P286L missense unknown POLE P286L lies within the exonuclease domain of the Pole protein (PMID: 29352080). P286L has been identified in the scientific literature (PMID: 25124163, PMID: 28776572), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
P286R missense loss of function POLE P286R lies within the exonuclease domain of the Pole protein (PMID: 29352080). P286R is associated with hypermutation in patient samples (PMID: 27612425, PMID: 23528559), results in a perturbation of the DNA-binding pocket by structural modeling (PMID: 23528559), and confers impaired exonuclease activity and increased mutation rate compared to wild-type Pole in vitro (PMID: 25228659, PMID: 29352080).
P286S missense unknown POLE P286S lies within the exonuclease domain of the Pole protein (PMID: 29352080). P286S has been identified in the scientific literature (PMID: 26648449, PMID: 28061006), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
P286T missense unknown POLE P286T lies within the exonuclease domain of the Pole protein (PMID: 29352080). P286T has been identified in the scientific literature (PMID: 29320758, PMID: 29316426), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
P436R missense loss of function - predicted POLE P436R lies within the exonuclease domain of the Pole protein (PMID: 29352080). P436R confers increased mutation rates compared to wild-type Pole protein in a yeast assay (PMID: 29352080), and therefore, is predicted to result in a loss of Pole protein function (PubMed, Dec 2018).
P441L missense unknown POLE P441L lies within the exonuclease domain of the Pole protein (PMID: 29352080). P441L has been identified in the scientific literature (PMID: 26763250, PMID: 29572003), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
Q2217* nonsense unknown POLE Q2217* results in a premature truncation of the Pole protein at amino acid 2217 of 2286 (UniProt.org). Q2217* has not been characterized in the scientific literature and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
R114* nonsense loss of function - predicted POLE R114* results in a premature truncation of the Pole protein at amino acid 114 of 2286 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R114* is predicted to lead to a loss of Pole protein function.
R1508H missense unknown POLE R1508H does not lie within any known functional domains of the Pole protein (UniProt.org). R1508H has been identified in sequencing studies (PMID: 29458332), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
R1519C missense unknown POLE R1519C does not lie within any known functional domains of the Pole protein (UniProt.org). R1519C has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
R1519H missense unknown POLE R1519H does not lie within any known functional domains of the Pole protein (UniProt.org). R1519H has not been characterized in the scientific literature and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
R1519L missense unknown POLE R1519L does not lie within any known functional domains of the Pole protein (UniProt.org). R1519L has not been characterized in the scientific literature and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
S297A missense unknown POLE S297A lies within the exonuclease domain of the Pole protein (PMID: 29352080). S297A has been identified in sequencing studies (PMID: 26763250), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
S297F missense unknown POLE S297F lies within the exonuclease domain of the Pole protein (PMID: 29352080). S297F has been identified in the scientific literature (PMID: 29559562, PMID: 27491810, PMID: 24844595), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Dec 2019).
S297Y missense unknown POLE S297Y lies within the exonuclease domain of the Pole protein (PMID: 29352080). S297Y has been identified in sequencing studies (PMID: 31240875), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Dec 2019).
S459F missense loss of function POLE S459F lies within the exonuclease domain of the Pole protein (PMID: 29352080). S459F results in loss of exonuclease activity in human cells (PMID: 25228659) and increased mutation rates in yeast assays compared to wild-type Pole (PMID: 29352080).
T278K missense unknown POLE T278K lies within the exonuclease domain of the Pole protein (PMID: 29352080). T278K has not been characterized in the scientific literature and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
T323A missense unknown POLE T323A lies within the exonuclease domain of the Pole protein (PMID: 29352080). T323A has been identified in the scientific literature (PMID: 29386312), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Nov 2019).
V1426I missense unknown POLE V1426I does not lie within any known functional domains of the Pole protein (UniProt.org). V1426I has been identified in sequencing studies (PMID: 30171174), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
V411L missense loss of function - predicted POLE V411L lies within the exonuclease domain of the Pole protein (PMID: 29352080). V411L results in reduced Pole exonuclease activity in an in vitro assay (PMID: 25228659), and therefore, is predicted to lead to a loss of Pole protein function.
V411M missense unknown POLE V411M lies within the exonuclease domain of the Pole protein (PMID: 29352080). V411M has been identified in sequencing studies (PMID: 30917185, PMID: 25124163), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
V411R missense unknown POLE V411R lies within the exonuclease domain of the Pole protein (PMID: 29352080). V411R has been identified in the scientific literature (PMID: 30194485), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).
V533M missense unknown POLE V533M lies within the polymerase domain of the Pole protein (PMID: 29352080). V533M has been identified in the scientific literature (PMID: 32098697), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2020).