Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.R93L
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HBA2

NM_000517.6:p.R93L

Associated Papers

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 New High Affinity Hemoglobin Variant: Hb San Francisco-KP (HBB: c.104T>C).

Tavakoli J et al.

Hemoglobin, 2021

Hb Bakersfield (HBA1: c.151_152insGGAGCC): The Insertion of Arg-His Between Codons 49 and 50 of the α1-Globin Chain Leads to Increased Oxygen Affinity.

Brunner-Agten S et al.

Hemoglobin, 2017

A Kindred with a β-Globin Base Substitution [β89(F5)Ser→Arg (AGT>AGG); HBB: c.270T>G] Resulting in Hemoglobin Vanderbilt.

Shomali W et al.

Hemoglobin, 0

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