PRKG2 c.2032C>T ;(p.R678*)

Variant ID: 4-82026998-G-A

NM_006259.1(PRKG2):c.2032C>T;(p.R678*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Polymorphism detection of PRKG2 gene and its association with the number of thoracolumbar vertebrae and carcass traits in Dezhou donkey.

Bmc Genomic Data
Wang, Tianqi T; Liu, Ziwen Z; Wang, Xinrui X; Li, Yuhua Y; Akhtar, Faheem F; Li, Mengmeng M; Zhang, Zhenwei Z; Zhan, Yandong Y; Shi, Xiaoyuan X; Ren, Wei W; Huang, Bingjian B; Wang, Changfa C; Chai, Wenqiong W
Publication Date: 2023-01-04

Variant appearance in text: PRKG2: R678X
PubMed Link: 36600198
Variant Present in the following documents:
  • Main text
  • 12863_2022_Article_1101.pdf
View BVdb publication page



Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Journal For Immunotherapy Of Cancer
Dai, Jie J; Bai, Xue X; Gao, Xuan X; Tang, Lirui L; Chen, Yu Y; Sun, Linzi L; Wei, Xiaoting X; Li, Caili C; Qi, Zhonghui Z; Kong, Yan Y; Cui, Chuanliang C; Chi, Zhihong Z; Sheng, Xinan X; Xu, Zelong Z; Lian, Bin B; Li, Siming S; Yan, Xieqiao X; Tang, Bixia B; Zhou, Li L; Wang, Xuan X; Xia, Xuefeng X; Guo, Jun J; Mao, Lili L; Si, Lu L
Publication Date: 2023-01

Variant appearance in text: PRKG2: 2032C>T; Arg678Ter
PubMed Link: 36593066
Variant Present in the following documents:
  • jitc-2022-005937supp007.xls, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: PRKG2: R678*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: PRKG2: R678*; rs760133321
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Genetic disorders in beef cattle: a review.

Genes & Genomics
Ciepłoch, Aleksandra A; Rutkowska, Karolina K; Oprządek, Jolanta J; Poławska, Ewa E
Publication Date: 2017

Variant appearance in text: PRKG2: 2032C>T
PubMed Link: 28458779
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transcriptional profiling of PRKG2-null growth plate identifies putative down-stream targets of PRKG2.

Bmc Research Notes
Koltes, James E JE; Kumar, Dinesh D; Kataria, Ranjit S RS; Cooper, Vickie V; Reecy, James M JM
Publication Date: 2015-04-30

Variant appearance in text: PRKG2: R678X
PubMed Link: 25924610
Variant Present in the following documents:
  • Main text
  • 13104_2015_Article_1136.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: PRKG2: R678*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Koltes, James E JE; Mishra, Bishnu P BP; Kumar, Dinesh D; Kataria, Ranjit S RS; Totir, Liviu R LR; Fernando, Rohan L RL; Cobbold, Rowland R; Steffen, David D; Coppieters, Wouter W; Georges, Michel M; Reecy, James M JM
Publication Date: 2009-11-17

Variant appearance in text: PRKG2: R678X
PubMed Link: 19887637
Variant Present in the following documents:
  • Main text
View BVdb publication page