POLE c.1264C>T ;(p.H422Y)

Variant ID: 12-133250256-G-A

NM_006231.2(POLE):c.1264C>T;(p.H422Y)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: 1264C>T; H422Y; rs745356467
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Efficient identification of neoantigen-specific T-cell responses in advanced human ovarian cancer.

Journal For Immunotherapy Of Cancer
Liu, Song S; Matsuzaki, Junko J; Wei, Lei L; Tsuji, Takemasa T; Battaglia, Sebastiano S; Hu, Qiang Q; Cortes, Eduardo E; Wong, Laiping L; Yan, Li L; Long, Mark M; Miliotto, Anthony A; Bateman, Nicholas W NW; Lele, Shashikant B SB; Chodon, Thinle T; Koya, Richard C RC; Yao, Song S; Zhu, Qianqian Q; Conrads, Thomas P TP; Wang, Jianmin J; Maxwell, George L GL; Lugade, Amit A AA; Odunsi, Kunle K
Publication Date: 2019-06-20

Variant appearance in text: POLE: H422Y
PubMed Link: 31221207
Variant Present in the following documents:
  • 40425_2019_629_MOESM13_ESM.xlsx, sheet 1
  • 40425_2019_629_MOESM15_ESM.xlsx, sheet 1
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: H422Y
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: POLE: 1264C>T
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment.

Cancer Medicine
Stenzinger, Albrecht A; Pfarr, Nicole N; Endris, Volker V; Penzel, Roland R; Jansen, Lina L; Wolf, Thomas T; Herpel, Esther E; Warth, Arne A; Klauschen, Frederick F; Kloor, Matthias M; Roth, Wilfried W; Bläker, Hendrik H; Chang-Claude, Jenny J; Brenner, Hermann H; Hoffmeister, Michael M; Weichert, Wilko W
Publication Date: 2014-12

Variant appearance in text: POLE: 1264C>T; H422Y
PubMed Link: 25124163
Variant Present in the following documents:
  • Main text
  • cam40003-1527.pdf
View BVdb publication page