Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.P6R
Back to variants list

HBB

NM_000518.5:p.P6R

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

De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease.

Melamed D et al.

Genome Research, 2022

Detection of functional polymorphisms influencing the promoter activity of the SAA2 gene and their association with milk production traits in Chinese Holstein cows.

Yang S et al.

Animal Genetics, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server.

Hardison RC et al.

Human Mutation, 2002

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."