Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.Y131D
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HBB

NM_000518.5:p.Y131D

Associated Papers

A structural machine learning approach for rapid prediction of thermodynamically destabilizing tyrosine phosphorylations.

Woodard J et al.

Cell Reports Methods, 2025

40957401 (PubMed )
Supplement: mmc1.pdf

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

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

Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.

Sahoo SS et al.

Hemoglobin, 2014

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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."