POLE c.6712T>A ;(p.C2238S)

Variant ID: 12-133201526-A-T

NM_006231.2(POLE):c.6712T>A;(p.C2238S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hyperactive CDK2 Activity in Basal-like Breast Cancer Imposes a Genome Integrity Liability that Can Be Exploited by Targeting DNA Polymerase ε.

Molecular Cell
Sviderskiy, Vladislav O VO; Blumenberg, Lili L; Gorodetsky, Elizabeth E; Karakousi, Triantafyllia R TR; Hirsh, Nicole N; Alvarez, Samantha W SW; Terzi, Erdem M EM; Kaparos, Efiyenia E; Whiten, Gabrielle C GC; Ssebyala, Shakirah S; Tonzi, Peter P; Mir, Hannan H; Neel, Benjamin G BG; Huang, Tony T TT; Adams, Sylvia S; Ruggles, Kelly V KV; Possemato, Richard R
Publication Date: 2020-11-19

Variant appearance in text: POLE: C2238S
PubMed Link: 33152268
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive analysis of indels in whole-genome microsatellite regions and microsatellite instability across 21 cancer types.

Genome Research
Fujimoto, Akihiro A; Fujita, Masashi M; Hasegawa, Takanori T; Wong, Jing Hao JH; Maejima, Kazuhiro K; Oku-Sasaki, Aya A; Nakano, Kaoru K; Shiraishi, Yuichi Y; Miyano, Satoru S; Yamamoto, Go G; Akagi, Kiwamu K; Imoto, Seiya S; Nakagawa, Hidewaki H
Publication Date: 2020-03-24

Variant appearance in text: POLE: C2238S
PubMed Link: 32209592
Variant Present in the following documents:
  • supp_gr.255026.119_Supplemental_Tables.xlsx, sheet 12
View BVdb publication page