POLE c.957T>G ;(p.D319E)

Variant ID: 12-133252743-A-C

NM_006231.2(POLE):c.957T>G;(p.D319E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Evolutionary route of nasopharyngeal carcinoma metastasis and its clinical significance.

Nature Communications
Lin, Mei M; Zhang, Xiao-Long XL; You, Rui R; Liu, You-Ping YP; Cai, Hong-Min HM; Liu, Li-Zhi LZ; Liu, Xue-Fei XF; Zou, Xiong X; Xie, Yu-Long YL; Zou, Ru-Hai RH; Zhang, Yi-Nuan YN; Sun, Rui R; Feng, Wei-Yi WY; Wang, Hai-Yan HY; Tao, Gui-Hua GH; Li, Hao-Jiang HJ; Huang, Wen-Jie WJ; Zhang, Chao C; Huang, Pei-Yu PY; Wang, Jin J; Zhao, Qi Q; Yang, Qi Q; Zhang, Hong-Wan HW; Liu, Ting T; Li, Hui-Feng HF; Jiang, Xiao-Bing XB; Tang, Jun J; Gu, Yang-Kui YK; Yu, Tao T; Wang, Zhi-Qiang ZQ; Feng, Lin L; Kang, Tie-Bang TB; Zuo, Zhi-Xiang ZX; Chen, Ming-Yuan MY
Publication Date: 2023-02-04

Variant appearance in text: POLE: 957T>G; D319E
PubMed Link: 36739462
Variant Present in the following documents:
  • 41467_2023_35995_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Rare cases of medulloblastoma with hypermutation.

Cancer Reports (Hoboken, N.J.)
Bagchi, Aditi A; Beddows, Ian I; Cornelius, Albert A; Robinson, Giles W GW; Jewell, Scott D SD
Publication Date: 2022-05

Variant appearance in text: POLE: D319E
PubMed Link: 34351088
Variant Present in the following documents:
  • Main text
  • CNR2-5-e1521.pdf
  • CNR2-5-e1521-s003.pdf
View BVdb publication page



Interpretation of somatic POLE mutations in endometrial carcinoma.

The Journal Of Pathology
León-Castillo, Alicia A; Britton, Heidi H; McConechy, Melissa K MK; McAlpine, Jessica N JN; Nout, Remi R; Kommoss, Stefan S; Brucker, Sara Y SY; Carlson, Joseph W JW; Epstein, Elisabeth E; Rau, Tilman T TT; Bosse, Tjalling T; Church, David N DN; Gilks, C Blake CB
Publication Date: 2020-03

Variant appearance in text: POLE: 957T>G; D319E
PubMed Link: 31829442
Variant Present in the following documents:
  • PATH-250-323-s002.xlsx, sheet 2
View BVdb publication page