Varaico: Literature-Extracted Genetic Variants

Gene:BLVRB
Variant:p.S111L
Back to variants list

BLVRB

NM_000713.3:p.S111L

Associated Papers

Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.

Scimone C et al.

International Journal of Molecular Sciences, 2020

32560555 (PubMed )
Supplement: ijms-21-04321-s001.zip › S2_Selected_Variants.xlsx › AVM1

Biliverdin Reductase B Dynamics Are Coupled to Coenzyme Binding.

Paukovich N et al.

Journal of Molecular Biology, 2018

Enzymatic Activity and Thermodynamic Stability of Biliverdin IXβ Reductase Are Maintained by an Active Site Serine.

Chu WT et al.

Chemistry (weinheim an Der Bergstrasse, Germany), 2017

BLVRB redox mutation defines heme degradation in a metabolic pathway of enhanced thrombopoiesis in humans.

Wu S et al.

Blood, 2016

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."