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POLE c.881T>G ;(p.M294R)
Variant ID: 12-133253160-A-C
NM_006231.2(
POLE
):c.881T>G;(p.M294R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.
Frontiers In Genetics
Jiang, Miao M; Jia, Yongliang Y; Han, Jinming J; Shi, Jianxiang J; Su, Chang C; Zhang, Rui R; Xing, Menglu M; Jin, Shuiling S; Zong, Hong H
Publication Date: 2022
Variant appearance in text: POLE: 881T>G; Met294Arg
PubMed Link:
36479248
Variant Present in the following documents:
Main text
fgene-13-963964.pdf
View BVdb publication page
Role of POLE and POLD1 in familial cancer.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mur, Pilar P; García-Mulero, Sandra S; Del Valle, Jesús J; Magraner-Pardo, Lorena L; Vidal, August A; Pineda, Marta M; Cinnirella, Giacomo G; Martín-Ramos, Edgar E; Pons, Tirso T; López-Doriga, Adriana A; Belhadj, Sami S; Feliubadaló, Lidia L; Munoz-Torres, Pau M PM; Navarro, Matilde M; Grau, Elia E; Darder, Esther E; Llort, Gemma G; Sanz, Judit J; Ramón Y Cajal, Teresa T; Balmana, Judith J; Brunet, Joan J; Moreno, Victor V; Piulats, Josep M JM; Matías-Guiu, Xavier X; Sanz-Pamplona, Rebeca R; Aligué, Rosa R; Capellá, Gabriel G; Lázaro, Conxi C; Valle, Laura L
Publication Date: 2020-12
Variant appearance in text: POLE: 881T>G; Met294Arg
PubMed Link:
32792570
Variant Present in the following documents:
Main text
41436_2020_Article_922.pdf
41436_2020_922_MOESM1_ESM.pdf
View BVdb publication page