Varaico: Literature-Extracted Genetic Variants

Gene:POLE
Variant:p.P557S
Back to variants list

POLE

NM_006231.4:p.P557S

Associated Papers

Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.

Demidova EV et al.

Bmc Genomics, 2023

37095444 (PubMed )
Supplement: 12864_2023_9310_MOESM1_ESM.zip › 12864_2023_9310_MOESM1_ESM.pdf

POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.

Chen YX et al.

Clinical and Translational Medicine, 2021

34586735 (PubMed )
Supplement: CTM2-11-e524-s001.xlsx › Supplementary_Table_2

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s020.xlsx › Figure.2.Drivers.Edited
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."