Varaico: Literature-Extracted Genetic Variants

Gene:NR0B2
Variant:p.R213C
Back to variants list

NR0B2

NM_021969.3:p.R213C

Associated Papers

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.

Bauer R et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Koh J et al.

Blood Advances, 2021

34535012 (PubMed )
Supplement: advancesADV2021004562-suppl2.xlsx › S8

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Up to date on cholesterol 7 alpha-hydroxylase (CYP7A1) in bile acid synthesis.

Chiang JYL et al.

Liver Research (beijing, China), 2020

Mutations in the small heterodimer partner gene increase morbidity risk in Japanese type 2 diabetes patients.

Enya M et al.

Human Mutation, 2008

Dual mechanisms for repression of the monomeric orphan receptor liver receptor homologous protein-1 by the orphan small heterodimer partner.

Lee YK et al.

The Journal of Biological Chemistry, 2002

Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.

Nishigori H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2001

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."