Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L106H
Back to variants list

HBB

NM_000518.5:p.L106H

Associated Papers

Identification of a Rare β-Globin Chain Hemoglobin Variant: HBB: C.24G > C (Glu7Asp).

Zhuang Q et al.

Hemoglobin, 2025

A Novel β-Globin Variant, Hb Odder [HBB: C.316C > G; CD105 (Leu > Val)].

Gravholt EAE et al.

Hemoglobin, 2024

Hb Santa Juana (β 108(G10) Asn > Ser): a low oxygen affinity hemoglobin variant in a family of Bosnian background.

Wildenberg NP et al.

Hematology (amsterdam, Netherlands), 2023

Novel, de novo, beta-globin variant with decreased oxygen affinity (HBB:c.317T>A, "Hemoglobin St. George") in a healthy child with low oxygen saturations and anemia.

Meznarich JA et al.

American Journal of Hematology, 2021

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."