Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L4M
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HBB

NM_000518.5:p.L4M

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-HBB

A novel mutation Hb jiangnan[β3(NA3) Leu→Lys, HBB:c.10-_11delinsAA] causing elevated Hb A2 level.

Liang L et al.

Hematology (amsterdam, Netherlands), 2022

Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).

Turner A et al.

Bmc Medical Genetics, 2016

Disease-associated mutations that alter the RNA structural ensemble.

Halvorsen M et al.

Plos Genetics, 2010

Analysis of a nuclear localization signal of simian virus 40 major capsid protein Vp1.

Ishii N et al.

Journal of Virology, 1996

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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."