Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H64Y
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HBB

NM_000518.5:p.H64Y

Associated Papers

A Novel Alpha1-Variant (HBA1:c.-35T>C) Complexed With the First Reported Hb M-Saskatoon in the Chinese Population.

Yang Y et al.

Molecular Genetics & Genomic Medicine, 2026

The first Chinese hb m-saskatoon [HBB: c.190 c > t p.His64Tyr] case with low oxygen saturation in 50-year-old women.

Zhang Y et al.

Annals of Hematology, 2025

Anesthetic Management of a Patient With Hemoglobin M Disease Undergoing Laparoscopic Uterine Myomectomy: A Case Report.

You L et al.

Journal of Perianesthesia Nursing : Official Journal of the American Society of Perianesthesia Nurses, 2024

Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review.

Thaker P et al.

International Journal of Laboratory Hematology, 2024

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

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

Cyanosis, hemolysis, decreased HbA1c and abnormal co-oximetry in a patient with hemoglobin M Saskatoon [HBB:c.190C > T p.His64Tyr].

Göttgens EL et al.

Hematology (amsterdam, Netherlands), 2021

First Observation of HbM-Saskatoon at the Origin of Neonatal Cyanosis in a Tunisian Baby.

Bouatrous E et al.

Journal of Pediatric Hematology/oncology, 2021

VENUS, a Novel Selection Approach to Improve the Accuracy of Neoantigens' Prediction.

Leoni G et al.

Vaccines, 2021

34452005 (PubMed )
Supplement: vaccines-09-00880-s001.zip › SupplementaryTable1.xlsx › 3903

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

Effects of α subunit substitutions on the oxidation of βCys93 and the stability of sickle cell hemoglobin.

Hicks W et al.

Redox Report : Communications in Free Radical Research, 2020

Substitutions in the β subunits of sickle-cell hemoglobin improve oxidative stability and increase the delay time of sickle-cell fiber formation.

Meng F et al.

The Journal of Biological Chemistry, 2019

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

Compound heterozygosity of Hb Hamilton and de novo mutated HbM Saskatoon.

Brunner-Agten S et al.

Annals of Hematology, 2010

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