GCKR c.335G>A ;(p.R112Q)

Variant ID: 2-27721171-G-A

NM_001486.3(GCKR):c.335G>A;(p.R112Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.

Stroke And Vascular Neurology
Shi, Mengmeng M; Leng, Xinyi X; Li, Ying Y; Chen, Zihan Z; Cao, Ye Y; Chung, Tiffany T; Ip, Bonaventure Ym BY; Ip, Vincent Hl VH; Soo, Yannie Oy YO; Fan, Florence Sy FS; Ma, Sze Ho SH; Ma, Karen K; Chan, Anne Y Y AYY; Au, Lisa Wc LW; Leung, Howan H; Lau, Alexander Y AY; Mok, Vincent Ct VC; Choy, Kwong Wai KW; Dong, Zirui Z; Leung, Thomas W TW
Publication Date: 2022-06

Variant appearance in text: GCKR: R112Q
PubMed Link: 34880113
Variant Present in the following documents:
  • svn-2021-001157supp001.pdf
View BVdb publication page



Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.

Ebiomedicine
Jin, Jing-Lu JL; Sun, Di D; Cao, Ye-Xuan YX; Zhang, Hui-Wen HW; Guo, Yuan-Lin YL; Wu, Na-Qiong NQ; Zhu, Cheng-Gang CG; Gao, Ying Y; Dong, Qiu-Ting QT; Liu, Geng G; Dong, Qian Q; Li, Jian-Jun JJ
Publication Date: 2018-12

Variant appearance in text: GCKR: 335G>A; R112Q
PubMed Link: 30420299
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page