GCKR c.1657C>T ;(p.R553W)

Variant ID: 2-27745411-C-T

NM_001486.3(GCKR):c.1657C>T;(p.R553W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pleiotropic Effects of Common and Rare GCKR Exonic Mutations on Cardiometabolic Traits.

Genes
Yeh, Kuan-Hung KH; Hsu, Lung-An LA; Teng, Ming-Sheng MS; Wu, Semon S; Chou, Hsin-Hua HH; Ko, Yu-Lin YL
Publication Date: 2022-03-10

Variant appearance in text: GCKR: Arg553Trp
PubMed Link: 35328045
Variant Present in the following documents:
  • Main text
  • genes-13-00491.pdf
View BVdb publication page



Targeted sequencing of candidate genes of dyslipidemia in Punjabi Sikhs: Population-specific rare variants in GCKR promote ectopic fat deposition.

Plos One
Sanghera, Dharambir K DK; Hopkins, Ruth R; Malone-Perez, Megan W MW; Bejar, Cynthia C; Tan, Chengcheng C; Mussa, Huda H; Whitby, Paul P; Fowler, Ben B; Rao, Chinthapally V CV; Fung, KarMing A KA; Lightfoot, Stan S; Frazer, J Kimble JK
Publication Date: 2019

Variant appearance in text: GCKR: Arg553Trp; rs755537970
PubMed Link: 31369557
Variant Present in the following documents:
  • Main text
  • pone.0211661.pdf
View BVdb publication page