Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.E117K
Back to variants list

HBA1

NM_000558.5:p.E117K

Associated Papers

Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.

Thaker P et al.

International Journal of Laboratory Hematology, 2024

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.

Tepakhan W et al.

Scientific Reports, 2024

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

A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.

Khalil MSM et al.

Hemoglobin, 2020

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

Scheps KG et al.

Human Mutation, 2020

Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.

de la Fuente-Gonzalo F et al.

Annals of Hematology, 2019

Clinico-Hematological Presentation of Rare Hemoglobin Variant (HB-O Indonesia) in 3 Families.

Kumar R et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2019

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Nadkarni AH et al.

International Journal of Laboratory Hematology, 2019

Novel mutations responsible for α-thalassemia in Iranian families.

Bayat N et al.

Hemoglobin, 2013

Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE.

Lacerra G et al.

Human Mutation, 2004

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."