PPP1R9A c.3400C>T ;(p.R1134W)

Variant ID: 7-94913433-C-T

NM_001166160.1(PPP1R9A):c.3400C>T;(p.R1134W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16

Variant appearance in text: PPP1R9A: R1134W
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Nature Communications
Newell, Felicity F; Kong, Yan Y; Wilmott, James S JS; Johansson, Peter A PA; Ferguson, Peter M PM; Cui, Chuanliang C; Li, Zhongwu Z; Kazakoff, Stephen H SH; Burke, Hazel H; Dodds, Tristan J TJ; Patch, Ann-Marie AM; Nones, Katia K; Tembe, Varsha V; Shang, Ping P; van der Weyden, Louise L; Wong, Kim K; Holmes, Oliver O; Lo, Serigne S; Leonard, Conrad C; Wood, Scott S; Xu, Qinying Q; Rawson, Robert V RV; Mukhopadhyay, Pamela P; Dummer, Reinhard R; Levesque, Mitchell P MP; Jönsson, Göran G; Wang, Xuan X; Yeh, Iwei I; Wu, Hong H; Joseph, Nancy N; Bastian, Boris C BC; Long, Georgina V GV; Spillane, Andrew J AJ; Shannon, Kerwin F KF; Thompson, John F JF; Saw, Robyn P M RPM; Adams, David J DJ; Si, Lu L; Pearson, John V JV; Hayward, Nicholas K NK; Waddell, Nicola N; Mann, Graham J GJ; Guo, Jun J; Scolyer, Richard A RA
Publication Date: 2019-07-18

Variant appearance in text: PPP1R9A: 3400C>T; Arg1134Trp; rs201287298
PubMed Link: 31320640
Variant Present in the following documents:
  • 41467_2019_11107_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Exome Sequence Analysis of 14 Families With High Myopia.

Investigative Ophthalmology & Visual Science
Kloss, Bethany A BA; Tompson, Stuart W SW; Whisenhunt, Kristina N KN; Quow, Krystina L KL; Huang, Samuel J SJ; Pavelec, Derek M DM; Rosenberg, Thomas T; Young, Terri L TL
Publication Date: 2017-04-01

Variant appearance in text: PPP1R9A: 3400C>T; Arg1134Trp; rs201287298
PubMed Link: 28384719
Variant Present in the following documents:
  • iovs-58-03-58_s01.pdf
View BVdb publication page