POLE c.1718G>T ;(p.R573L)

Variant ID: 12-133248877-C-A

NM_006231.2(POLE):c.1718G>T;(p.R573L)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: POLE: R573L
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Reversal of viral and epigenetic HLA class I repression in Merkel cell carcinoma.

The Journal Of Clinical Investigation
Lee, Patrick C PC; Klaeger, Susan S; Le, Phuong M PM; Korthauer, Keegan K; Cheng, Jingwei J; Ananthapadmanabhan, Varsha V; Frost, Thomas C TC; Stevens, Jonathan D JD; Wong, Alan Yl AY; Iorgulescu, J Bryan JB; Tarren, Anna Y AY; Chea, Vipheaviny A VA; Carulli, Isabel P IP; Lemvigh, Camilla K CK; Pedersen, Christina B CB; Gartin, Ashley K AK; Sarkizova, Siranush S; Wright, Kyle T KT; Li, Letitia W LW; Nomburg, Jason J; Li, Shuqiang S; Huang, Teddy T; Liu, Xiaoxi X; Pomerance, Lucas L; Doherty, Laura M LM; Apffel, Annie M AM; Wallace, Luke J LJ; Rachimi, Suzanna S; Felt, Kristen D KD; Wolff, Jacquelyn O JO; Witten, Elizabeth E; Zhang, Wandi W; Neuberg, Donna D; Lane, William J WJ; Zhang, Guanglan G; Olsen, Lars R LR; Thakuria, Manisha M; Rodig, Scott J SJ; Clauser, Karl R KR; Starrett, Gabriel J GJ; Doench, John G JG; Buhrlage, Sara J SJ; Carr, Steven A SA; DeCaprio, James A JA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2022-07-01

Variant appearance in text: POLE: R573L
PubMed Link: 35775490
Variant Present in the following documents:
  • jci-132-151666-s199.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: POLE: 1718G>T; R573L
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



A large peptidome dataset improves HLA class I epitope prediction across most of the human population.

Nature Biotechnology
Sarkizova, Siranush S; Klaeger, Susan S; Le, Phuong M PM; Li, Letitia W LW; Oliveira, Giacomo G; Keshishian, Hasmik H; Hartigan, Christina R CR; Zhang, Wandi W; Braun, David A DA; Ligon, Keith L KL; Bachireddy, Pavan P; Zervantonakis, Ioannis K IK; Rosenbluth, Jennifer M JM; Ouspenskaia, Tamara T; Law, Travis T; Justesen, Sune S; Stevens, Jonathan J; Lane, William J WJ; Eisenhaure, Thomas T; Lan Zhang, Guang G; Clauser, Karl R KR; Hacohen, Nir N; Carr, Steven A SA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2020-02

Variant appearance in text: POLE: R573L
PubMed Link: 31844290
Variant Present in the following documents:
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 53
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 10
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 18
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 75
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 9
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 54
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 33
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 76
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 5
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 92
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 65
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 39
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 21
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 17
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 25
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 29
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 69
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 6
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 88
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 14
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 19
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 3
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 60
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 73
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 81
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 62
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 36
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 22
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 91
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 89
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 2
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 85
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 24
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 12
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 6
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 77
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 86
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 84
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 3
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 16
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 15
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 31
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 44
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 90
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 8
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 23
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 7
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 83
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 47
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 40
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 26
  • NIHMS1541512-supplement-Sup_Data2.xlsx, sheet 2
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 50
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 51
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 56
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 4
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 49
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 27
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 5
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 13
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 57
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 42
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 68
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 70
  • NIHMS1541512-supplement-Sup_Data1.xlsx, sheet 45
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: POLE: R573L
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: POLE: R573L
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: POLE: 1718G>T; R573L
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Loss of switch/sucrose non-fermenting complex protein expression is associated with dedifferentiation in endometrial carcinomas.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Karnezis, Anthony N AN; Hoang, Lien N LN; Coatham, Mackenzie M; Ravn, Sarah S; Almadani, Noorah N; Tessier-Cloutier, Basile B; Irving, Julie J; Meng, Bo B; Li, Xiaodong X; Chow, Christine C; McAlpine, Jessica J; Kuo, Kuan-Ting KT; Mao, Tsui-Lien TL; Djordjevic, Bojana B; Soslow, Robert A RA; Huntsman, David G DG; Blake Gilks, C C; Köbel, Martin M; Lee, Cheng-Han CH
Publication Date: 2016-03

Variant appearance in text: POLE: R573L
PubMed Link: 26743474
Variant Present in the following documents:
  • Main text
View BVdb publication page