PPP1R9A c.4051G>T ;(p.E1351*)

Variant ID: 7-94919541-G-T

NM_001166160.1(PPP1R9A):c.4051G>T;(p.E1351*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrative multi-omics and drug-response characterization of patient-derived prostate cancer primary cells.

Signal Transduction And Targeted Therapy
Wang, Ziruoyu Z; Li, Yanan Y; Zhao, Wensi W; Jiang, Shuai S; Huang, Yuqi Y; Hou, Jun J; Zhang, Xuelu X; Zhai, Zhaoyu Z; Yang, Chen C; Wang, Jiaqi J; Zhu, Jiying J; Pan, Jianbo J; Jiang, Wei W; Li, Zengxia Z; Ye, Mingliang M; Tan, Minjia M; Jiang, Haowen H; Dang, Yongjun Y
Publication Date: 2023-05-01

Variant appearance in text: PPP1R9A: Glu1351*
PubMed Link: 37121942
Variant Present in the following documents:
  • 41392_2023_1393_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: PPP1R9A: 4051G>T; Glu1351Ter
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page