POLE c.1230G>A ;(p.W410*)

Variant ID: 12-133250290-C-T

NM_006231.2(POLE):c.1230G>A;(p.W410*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Novel POLE mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus.

Journal Of Medical Genetics
Nakano, Tomohiro T; Sasahara, Yoji Y; Kikuchi, Atsuo A; Moriya, Kunihiko K; Niizuma, Hidetaka H; Niihori, Tetsuya T; Shirota, Matsuyuki M; Funayama, Ryo R; Nakayama, Keiko K; Aoki, Yoko Y; Kure, Shigeo S
Publication Date: 2022-05-09

Variant appearance in text: POLE: Trp410*
PubMed Link: 35534205
Variant Present in the following documents:
  • Main text
  • jmedgenet-2021-108300.pdf
View BVdb publication page



POLE Mutation Characteristics in a Chinese Cohort with Endometrial Carcinoma.

Oncotargets And Therapy
Li, Yiran Y; He, Qizhi Q; Li, Shuangdi S; Wen, Xiaoli X; Ye, Lei L; Wang, Kai K; Wan, Xiaoping X
Publication Date: 2020

Variant appearance in text: POLE: W410*
PubMed Link: 32801757
Variant Present in the following documents:
  • Main text
  • ott-13-7305.pdf
View BVdb publication page



Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer
Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,
Publication Date: 2019-05-15

Variant appearance in text: POLE: 1230G>A; Trp410*
PubMed Link: 30414346
Variant Present in the following documents:
  • Main text
  • IJC-144-2453.pdf
View BVdb publication page