Varaico: Literature-Extracted Genetic Variants

Gene:RHCE
Variant:p.A85G
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RHCE

NM_020485.8:p.A85G

Associated Papers

Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.

Gueuning M et al.

Blood Advances, 2026

41213005 (PubMed )
Supplement: BLOODA_ADV-2025-017463-mmc1.pdf

Introduction of an Optimized Protocol for Long-Read Nanopore Sequencing of Blood Group Genes in Immunohematology Case Studies.

Wörner L et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2026

Assessing reagents and techniques for identifying RhCE variants in routine serological testing.

de Paula Vendrame TA et al.

Vox Sanguinis, 2025

First investigation of RH gene polymorphism in patients with sickle cell disease and associated blood donors in Cameroon, Central Africa.

Mbeti JMM et al.

Blood Transfusion = Trasfusione Del Sangue, 2024

Machine learning to optimize automated RH genotyping using whole-exome sequencing data.

Chang TC et al.

Blood Advances, 2024

38522094 (PubMed )
Supplement: BLOODA_ADV-2023-011660-mmc1.xlsx › Rh

DNA Reference Reagents for Genotyping RH Variants.

Sippert E et al.

The Journal of Molecular Diagnostics : Jmd, 2024

Transfusing children with sickle cell disease using blood group genotyping when the pool of Black donors is limited.

Leiva-Torres GA et al.

Transfusion, 2024

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Antigen matching for transfusion support in Brazilian female patients with sickle cell disease to reduce RBC alloimmunization.

Muniz JG et al.

Transfusion, 2021

Impact of RHD genotyping on transfusion practice in Denmark and the United States and identification of novel RHD alleles.

Vege S et al.

Transfusion, 2021

Overcoming the challenges of interpreting complex and uncommon RH alleles from whole genomes.

Halls JBL et al.

Vox Sanguinis, 2020

RH genotyping by nonspecific quantitative next-generation sequencing.

Stef M et al.

Transfusion, 2020

A novel algorithm comprehensively characterizes human RH genes using whole-genome sequencing data.

Chang TC et al.

Blood Advances, 2020

Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts.

Wheeler MM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

29955105 (PubMed )
Supplement: NIHMS969264-supplement-Supplementary___Appendix__online_only_material__etc__.pdf

Identification of a novel frequent RHCE*ce308T variant allele in Chinese D- individuals, resulting in a C+c- phenotype.

Stegmann TC et al.

Transfusion, 2016

RHCE variants inherited with altered RHD alleles in Brazilian blood donors.

Prisco Arnoni C et al.

Transfusion Medicine (oxford, England), 2016

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.

Ben Hadj Hmida I et al.

Fertility and Sterility, 2016

Identification of six new RHCE variant alleles in individuals of diverse racial origin.

Goldman M et al.

Transfusion, 2016

RHCE*ceAG (254C>G, Ala85Gly) is prevalent in blacks, encodes a partial ce-phenotype, and is associated with discordant RHD zygosity.

Westhoff CM et al.

Transfusion, 2015

RH diversity in Mali: characterization of a new haplotype RHD*DIVa/RHCE*ceTI(D2).

Ba A et al.

Transfusion, 2015

The Duffy blood group system in the Tunisian population.

Ouchari M et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2015

DIIIa and DIII Type 5 are encoded by the same allele and are associated with altered RHCE*ce alleles: clinical implications.

Westhoff CM et al.

Transfusion, 2010

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