PC c.563G>C ;(p.G188A)

Variant ID: 11-66638593-C-G

NM_001040716.1(PC):c.563G>C;(p.G188A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia.

Jhep Reports : Innovation In Hepatology
Haring, Martijn P D MPD; Peeks, Fabian F; Oosterveer, Maaike H MH; Brouwers, Martijn C G J MCGJ; Hollak, Carla E M CEM; Janssen, Mirian C H MCH; Langendonk, Janneke G JG; Rennings, Alexander J M AJM; Wagenmakers, Margreet A E M MAEM; Verkade, Henkjan J HJ; Derks, Terry G J TGJ; de Meijer, Vincent E VE
Publication Date: 2022-08

Variant appearance in text: PC: 563G>C
PubMed Link: 35811762
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Nicotinamide N-Methyltransferase: Genomic Connection to Disease.

International Journal Of Tryptophan Research : Ijtr
Ramsden, David B DB; Waring, Rosemary H RH; Parsons, Richard B RB; Barlow, David J DJ; Williams, Adrian C AC
Publication Date: 2020

Variant appearance in text: PC: G188A
PubMed Link: 32547055
Variant Present in the following documents:
  • 10.1177_1178646920919770.pdf
View BVdb publication page



Nanodomain Clustering of the Plant Protein Remorin by Solid-State NMR.

Frontiers In Molecular Biosciences
Legrand, Anthony A; Martinez, Denis D; Grélard, Axelle A; Berbon, Melanie M; Morvan, Estelle E; Tawani, Arpita A; Loquet, Antoine A; Mongrand, Sébastien S; Habenstein, Birgit B
Publication Date: 2019

Variant appearance in text: PC: G188A
PubMed Link: 31681795
Variant Present in the following documents:
  • Main text
  • fmolb-06-00107.pdf
View BVdb publication page



Helix movement is coupled to displacement of the second extracellular loop in rhodopsin activation.

Nature Structural & Molecular Biology
Ahuja, Shivani S; Hornak, Viktor V; Yan, Elsa C Y EC; Syrett, Natalie N; Goncalves, Joseph A JA; Hirshfeld, Amiram A; Ziliox, Martine M; Sakmar, Thomas P TP; Sheves, Mordechai M; Reeves, Philip J PJ; Smith, Steven O SO; Eilers, Markus M
Publication Date: 2009-02

Variant appearance in text: PC: G188A
PubMed Link: 19182802
Variant Present in the following documents:
  • nihms103234.pdf
View BVdb publication page