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POLE c.824A>G ;(p.D275G)
Variant ID: 12-133253217-T-C
NM_006231.2(
POLE
):c.824A>G;(p.D275G)
This variant was identified in 10 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.
Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01
Variant appearance in text: POLE: D275G
PubMed Link:
34963661
Variant Present in the following documents:
supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page
POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.
Clinical And Translational Medicine
Chen, Yan-Xing YX; Wang, Zi-Xian ZX; Yuan, Shu-Qiang SQ; Jiang, Teng-Jia TJ; Huang, You-Sheng YS; Xu, Rui-Hua RH; Wang, Feng F; Zhao, Qi Q
Publication Date: 2021-09
Variant appearance in text: POLE: D275G
PubMed Link:
34586735
Variant Present in the following documents:
CTM2-11-e524-s001.xlsx, sheet 2
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: 824A>G; Asp275Gly
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.
Frontiers In Oncology
Xu, Ting T; Zhang, Yinjie Y; Zhang, Jing J; Qi, Changsong C; Liu, Dan D; Wang, Zhenghang Z; Li, Yanyan Y; Ji, Congcong C; Li, Jian J; Lin, Xuan X; Hou, Ting T; Liu, Hao H; Zhang, Lu L; Han-Zhang, Han H; Shen, Lin L; Wang, Xicheng X
Publication Date: 2020
Variant appearance in text: POLE: D275G
PubMed Link:
33194656
Variant Present in the following documents:
DataSheet_3.xlsx, sheet 1
View BVdb publication page
Ultra-mutated colorectal cancer patients with POLE driver mutations exhibit distinct clinical patterns.
Cancer Medicine
Hu, Hanguang H; Cai, Wen W; Wu, Dehao D; Hu, Wangxiong W; Dong Wang, Li L; Mao, Jianshan J; Zheng, Shu S; Ge, Weiting W
Publication Date: 2021-01
Variant appearance in text: POLE: D275G
PubMed Link:
33125191
Variant Present in the following documents:
Main text
CAM4-10-135.pdf
View BVdb publication page
Somatic POLE exonuclease domain mutations elicit enhanced intratumoral immune responses in stage II colorectal cancer.
Journal For Immunotherapy Of Cancer
Mo, Shaobo S; Ma, Xiaoji X; Li, Yaqi Y; Zhang, Long L; Hou, Ting T; Han-Zhang, Han H; Qian, Juanjuan J; Cai, Sanjun S; Huang, Dan D; Peng, Junjie J
Publication Date: 2020-08
Variant appearance in text: POLE: D275G
PubMed Link:
32859741
Variant Present in the following documents:
Main text
jitc-2020-000881supp010.pdf
jitc-2020-000881.pdf
View BVdb publication page
Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer.
Plos Genetics
Fang, Hu H; Barbour, Jayne A JA; Poulos, Rebecca C RC; Katainen, Riku R; Aaltonen, Lauri A LA; Wong, Jason W H JWH
Publication Date: 2020-02
Variant appearance in text: POLE: D275G
PubMed Link:
32012149
Variant Present in the following documents:
pgen.1008572.s019.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: D275G
PubMed Link:
31034466
Variant Present in the following documents:
pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page
POLE proofreading defects: Contributions to mutagenesis and cancer.
Dna Repair
Park, Vivian S VS; Pursell, Zachary F ZF
Publication Date: 2019-04
Variant appearance in text: POLE: D275G
PubMed Link:
30818169
Variant Present in the following documents:
Main text
View BVdb publication page
Comprehensive Analysis of Hypermutation in Human Cancer.
Cell
Campbell, Brittany B BB; Light, Nicholas N; Fabrizio, David D; Zatzman, Matthew M; Fuligni, Fabio F; de Borja, Richard R; Davidson, Scott S; Edwards, Melissa M; Elvin, Julia A JA; Hodel, Karl P KP; Zahurancik, Walter J WJ; Suo, Zucai Z; Lipman, Tatiana T; Wimmer, Katharina K; Kratz, Christian P CP; Bowers, Daniel C DC; Laetsch, Theodore W TW; Dunn, Gavin P GP; Johanns, Tanner M TM; Grimmer, Matthew R MR; Smirnov, Ivan V IV; Larouche, Valérie V; Samuel, David D; Bronsema, Annika A; Osborn, Michael M; Stearns, Duncan D; Raman, Pichai P; Cole, Kristina A KA; Storm, Phillip B PB; Yalon, Michal M; Opocher, Enrico E; Mason, Gary G; Thomas, Gregory A GA; Sabel, Magnus M; George, Ben B; Ziegler, David S DS; Lindhorst, Scott S; Issai, Vanan Magimairajan VM; Constantini, Shlomi S; Toledano, Helen H; Elhasid, Ronit R; Farah, Roula R; Dvir, Rina R; Dirks, Peter P; Huang, Annie A; Galati, Melissa A MA; Chung, Jiil J; Ramaswamy, Vijay V; Irwin, Meredith S MS; Aronson, Melyssa M; Durno, Carol C; Taylor, Michael D MD; Rechavi, Gideon G; Maris, John M JM; Bouffet, Eric E; Hawkins, Cynthia C; Costello, Joseph F JF; Meyn, M Stephen MS; Pursell, Zachary F ZF; Malkin, David D; Tabori, Uri U; Shlien, Adam A
Publication Date: 2017-11-16
Variant appearance in text: POLE: D275G
PubMed Link:
29056344
Variant Present in the following documents:
Main text
View BVdb publication page