Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.T117S
Back to variants list

CYB5R3

NM_000398.7:p.T117S

Associated Papers

CYB5R3 T117S Genetic Mutation Is Associated With Major Adverse Cardiovascular and Cerebrovascular Events in Black Adults.

Chaudhary R et al.

Circulation. Genomic and Precision Medicine, 2024

Global analysis of suppressor mutations that rescue human genetic defects.

Ünlü B et al.

Genome Medicine, 2023

37821946 (PubMed )
Supplement: 13073_2023_1232_MOESM3_ESM.xlsx › Data

Cytochrome b5 reductases: Redox regulators of cell homeostasis.

Hall R et al.

The Journal of Biological Chemistry, 2022

Loss of cardiomyocyte CYB5R3 impairs redox equilibrium and causes sudden cardiac death.

Carew NT et al.

The Journal of Clinical Investigation, 2022

Recommendations for diagnosis and treatment of methemoglobinemia.

Iolascon A et al.

American Journal of Hematology, 2021

The CYB5R3c .350C>G and G6PD A alleles modify severity of anemia in malaria and sickle cell disease.

Gordeuk VR et al.

American Journal of Hematology, 2020

Structural characterization of single nucleotide variants at ligand binding sites and enzyme active sites of human proteins.

Yamada KD et al.

Biophysics and Physicobiology, 2016

Cytochrome b5 and NADH cytochrome b5 reductase: genotype-phenotype correlations for hydroxylamine reduction.

Sacco JC et al.

Pharmacogenetics and Genomics, 2010

Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency.

Percy MJ et al.

British Journal of Haematology, 2008

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."