Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L4P
Back to variants list

HBB

NM_000518.5:p.L4P

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

First Observation of Hemoglobin Jabalpur [Beta 3 (NA3) Leu>Pro] in the Turkish Population.

Colak A et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2014

The relative levels of different types of beta-mRNA and beta-globin in BFU-E derived colonies from patients with beta chain variants; further evidence for somatic mosaicism in the Hb Costa Rica carrier [beta 77(EF1)His-->Arg].

Smetanina NS et al.

Hemoglobin, 1996

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."