Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.E277K
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PKLR

NM_000298.6:p.E277K

Associated Papers

Coinheritance of polymorphic alleles of PIEZO1, G6PD and HBB enhances protection against malaria.

Abad P et al.

One Health (amsterdam, Netherlands), 2025

Diagnosis, monitoring, and management of pyruvate kinase deficiency in children.

Johnson S et al.

Pediatric Blood & Cancer, 2022

Genetic variants of PKLR are associated with acute pain in sickle cell disease.

Wang X et al.

Blood Advances, 2022

Molecular heterogeneity of pyruvate kinase deficiency.

Bianchi P et al.

Haematologica, 2020

The variable manifestations of disease in pyruvate kinase deficiency and their management.

Al-Samkari H et al.

Haematologica, 2020

Coinheritance of hereditary ellyptocytosis, pyruvate kinase, and glucose-6-phosphate dehidrogenase mutations. A rare anemia diagnostic paradigm.

Krishnevskaya E et al.

International Journal of Laboratory Hematology, 2020

How we manage patients with pyruvate kinase deficiency.

Grace RF et al.

British Journal of Haematology, 2019

Discovery of genetic variants of the kinases that activate tenofovir among individuals in the United States, Thailand, and South Africa: HPTN067.

Figueroa DB et al.

Plos One, 2018

Pyruvate Kinase and Fcγ Receptor Gene Copy Numbers Associated With Malaria Phenotypes.

Faik I et al.

The Journal of Infectious Diseases, 2017

Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.

Kager L et al.

Pediatric Blood & Cancer, 2016

Exploring putative molecular mechanisms of human pyruvate kinase enzyme deficiency and its role in resistance against Plasmodium falciparum malaria.

Qidwai T et al.

Interdisciplinary Sciences, Computational Life Sciences, 2014

Genetic diversity in human erythrocyte pyruvate kinase.

Berghout J et al.

Genes and Immunity, 2012

Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.

Machado P et al.

Plos One, 2012

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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."