Varaico: Literature-Extracted Genetic Variants

Gene:AHSP
Variant:p.V56G
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AHSP

NM_016633.4:p.V56G

Associated Papers

Alpha-hemoglobin-stabilizing protein (AHSP): a modulatory factor in β-thalassemia.

Che Yaacob NS et al.

International Journal of Hematology, 2020

A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease.

Surapolchai P et al.

Annals of Hematology, 2017

Mutation near the binding interfaces at α-hemoglobin stabilizing protein is highly pathogenic.

Borgio JF et al.

American Journal of Translational Research, 2016

[Role of alpha-hemoglobin molecular chaperone in the hemoglobin formation and clinical expression of some hemoglobinopathies].

Vasseur C et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2015

Dynamics of α-Hb chain binding to its chaperone AHSP depends on heme coordination and redox state.

Kiger L et al.

Biochimica Et Biophysica Acta, 2014

α-Haemoglobin stabilising protein expression is influenced by mean cell haemoglobin and HbF levels in HbE/β-thalassaemia individuals.

Lim WF et al.

Blood Cells, Molecules & Diseases, 2012

[Application of denaturing high performance liquid chromatography for detection of alpha-hemoglobin-stabilizing protein gene].

Wang Z

Se Pu = Chinese Journal of Chromatography, 2011

Alpha-hemoglobin-stabilizing protein: an erythroid molecular chaperone.

Favero ME et al.

Biochemistry Research International, 2011

α-Hemoglobin stabilizing protein: a modulating factor in thalassemias?

Wajcman H et al.

Hemoglobin, 2011

Analysis of alpha-hemoglobin-stabilizing protein (AHSP) gene as a genetic modifier to the phenotype of beta-thalassemia in Southern China.

Wang Z et al.

Blood Cells, Molecules & Diseases, 2010

Alpha-hemoglobin stabilizing protein (AHSP), a kinetic scheme of the action of a human mutant, AHSPV56G.

Brillet T et al.

The Journal of Biological Chemistry, 2010

The Chaperones Involved in Hemoglobin Synthesis Take the Spotlight: Analysis of AHSP in the Argentinean Population and Review of the Literature.

Scheps KG et al.

Hemoglobin, 0

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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."