Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.A87T
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HBB

NM_000518.5:p.A87T

Associated Papers

In silico analysis of substitution mutations in the β-globin gene in Turkish population of β-thalassemia.

Alkilani S et al.

Journal of Biomolecular Structure & Dynamics, 2023

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-HBB

Hb Wanjiang: A New β-Globin Chain Variant with Two Amino Acid Substitutions (HBB: c.255_264delinsTTTTTCTCAG).

Wu SM et al.

Hemoglobin, 2022

Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G].

Nabhani IA et al.

Hemoglobin, 2020

Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.

Oliveira JL et al.

American Journal of Hematology, 2018

A Novel Hemoglobin Variant Associated with Congenital Erythrocytosis: Hb Seoul [β86(F2)Ala→Thr] (HBB:c.259G>A).

Shin SY et al.

Annals of Clinical and Laboratory Science, 2016

A Novel β-Globin Chain Hemoglobin Variant, Hb Allentown [β137(H15)Val→Trp (GTG>TGG) HBB: c.412_413delinsTG, p.Val138Trp], Associated with Low Oxygen Saturation, Intermittent Aplastic Crises and Splenomegaly.

Collier AB et al.

Hemoglobin, 2016

A new hemoglobin variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a double base mutation at the same codon.

Renoux C et al.

Hemoglobin, 2015

A new hemoglobin variant: Hb Izmir [β86(F2)Ala→Val, GCC>GTC; HBB:c.260C>T].

Çelebiler A et al.

Hemoglobin, 2012

Hb Nebraska [β86(F2)Ala→Ile (HBB:c.259G>A;260C>T)]: a unique high oxygen affinity hemoglobin variant with a double nucleotide substitution within the same codon.

Hoyer JD et al.

Hemoglobin, 2011

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