GCKR c.1768C>T ;(p.H590Y)

Variant ID: 2-27746196-C-T

NM_001486.3(GCKR):c.1768C>T;(p.H590Y)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: GCKR: 1768C>T; His590Tyr
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy.

Scientific Reports
Di Costanzo, Alessia A; Belardinilli, Francesca F; Bailetti, Diego D; Sponziello, Marialuisa M; D'Erasmo, Laura L; Polimeni, Licia L; Baratta, Francesco F; Pastori, Daniele D; Ceci, Fabrizio F; Montali, Anna A; Girelli, Gabriella G; De Masi, Bruna B; Angeloni, Antonio A; Giannini, Giuseppe G; Del Ben, Maria M; Angelico, Francesco F; Arca, Marcello M
Publication Date: 2018-02-27

Variant appearance in text: GCKR: His590Tyr; rs34792470
PubMed Link: 29487372
Variant Present in the following documents:
  • 41598_2018_21939_MOESM1_ESM.pdf
View BVdb publication page



Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.

Bmc Medical Genetics
Bagnall, Richard D RD; Molloy, Laura K LK; Kalman, Jonathan M JM; Semsarian, Christopher C
Publication Date: 2014-09-16

Variant appearance in text: GCKR: HIS590TYR
PubMed Link: 25224718
Variant Present in the following documents:
  • 12881_2014_99_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Journal Of Lipid Research
Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA
Publication Date: 2014-04

Variant appearance in text: GCKR: H590Y; rs34792470
PubMed Link: 24503134
Variant Present in the following documents:
  • supp_D045963_jlr.D045963-1.pdf
View BVdb publication page



Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.

The Journal Of Clinical Investigation
Rees, Matthew G MG; Ng, David D; Ruppert, Sarah S; Turner, Clesson C; Beer, Nicola L NL; Swift, Amy J AJ; Morken, Mario A MA; Below, Jennifer E JE; Blech, Ilana I; , ; Mullikin, James C JC; McCarthy, Mark I MI; Biesecker, Leslie G LG; Gloyn, Anna L AL; Collins, Francis S FS
Publication Date: 2012-01

Variant appearance in text: GCKR: His590Tyr
PubMed Link: 22182842
Variant Present in the following documents:
  • Main text
View BVdb publication page