Varaico: Literature-Extracted Genetic Variants

Gene:KLB
Variant:p.R728Q
Back to variants list

KLB

NM_175737.4:p.R728Q

Associated Papers

Custom Gene Panel Analysis Identifies Novel Polymorphisms Associated with Clopidogrel Response in Patients Undergoing Percutaneous Coronary Intervention with Stent.

Antúnez-Rodríguez A et al.

International Journal of Molecular Sciences, 2025

41097034 (PubMed )
Supplement: ijms-26-09766-s001.zip › ijms-3859360-supplementary.pdf

Site-specific analysis and functional characterization of N-linked glycosylation for β-Klotho protein.

Geng L et al.

International Journal of Biological Macromolecules, 2025

Role of genetic variants and DNA methylation of lipid metabolism-related genes in metabolic dysfunction-associated steatotic liver disease.

Wang JJ et al.

Frontiers in Physiology, 2025

40166716 (PubMed )
Supplement: Table1.xlsx › Table_S1__

PNPLA3-Ile148Met and TM6SF2-Glu167Lys increase susceptibility to metabolic dysfunction-associated steatotic liver disease in children.

Yao H et al.

Frontiers in Endocrinology, 2025

Targeted next-generation sequencing panel to investigate antiplatelet adverse reactions in acute coronary syndrome patients undergoing percutaneous coronary intervention with stenting.

Antúnez-Rodríguez A et al.

Thrombosis Research, 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

NAFLD: genetics and its clinical implications.

Sharma D et al.

Clinics and Research in Hepatology and Gastroenterology, 2022

The KLB rs17618244 gene variant is associated with fibrosing MAFLD by promoting hepatic stellate cell activation.

Panera N et al.

Ebiomedicine, 2021

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.

Mkaouar R et al.

Frontiers in Genetics, 2021

34539727 (PubMed )
Supplement: Table_8.XLSX › Feuil1

β-Klotho gene variation is associated with liver damage in children with NAFLD.

Dongiovanni P et al.

Journal of Hepatology, 2020

Pharmacogenetics in irritable bowel syndrome.

Acosta A et al.

Expert Opinion on Drug Metabolism & Toxicology, 2015

Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit.

Camilleri M et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014

Pharmacogenetics of the effects of colesevelam on colonic transit in irritable bowel syndrome with diarrhea.

Wong BS et al.

Digestive Diseases and Sciences, 2012

A Klothoβ variant mediates protein stability and associates with colon transit in irritable bowel syndrome with diarrhea.

Wong BS et al.

Gastroenterology, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."