Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H3Q
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HBB

NM_000518.5:p.H3Q

Associated Papers

Human genetic variations conferring resistance to malaria.

Zhang X et al.

Journal of Translational Medicine, 2025

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps KG et al.

Human Mutation, 2020

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.

van Zwieten R et al.

Hemoglobin, 2014

High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population.

Lin M et al.

Plos One, 2014

The association between intragenic SNP haplotypes and mutations of the beta globin gene in a Turkish population.

Bilgen T et al.

Blood Cells, Molecules & Diseases, 2011

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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."