Varaico: Literature-Extracted Genetic Variants

Gene:RHCE
Variant:p.A226P
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RHCE

NM_020485.8:p.A226P

Associated Papers

A novel RHCE*02 variant with a recombination of RHD exon 3 in a Chinese D+ voluntary blood donor with weak expression of e antigen.

Yang HM et al.

Transfusion, 2026

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

A novel RHCE*ce(c.48C)-D(4)-ce allele in a family of African ancestry.

Tournamille C et al.

Transfusion, 2025

Advancing blood group diagnosis with molecular methods: A focus on clinically challenging cases.

Zhu X et al.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2025

Alloanti-D induction in a rare RhD variant (DBT-2) case: Insights from serological and molecular biological testing.

Xu Z et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2025

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

de Paula Vendrame TA et al.

Vox Sanguinis, 2025

RHCE genotyping using next generation sequencing: Allele specific reference sequences.

Tounsi WA et al.

Transfusion, 2025

Rapid change in red cell blood group systems after the main Out of Africa of Homo sapiens.

Mazières S et al.

Scientific Reports, 2025

39848961 (PubMed )
Supplement: 41598_2024_83023_MOESM1_ESM.xlsx › Table_S7

Identification of a novel RHCE*Ce (829G > A) allele associated with absence of C and e antigens expression.

Xuan C et al.

Transfusion Medicine (oxford, England), 2024

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

Characterization of Blood Group Variants in an Omani Population by Comparison of Whole Genome Sequencing and Serology.

Haffener PE et al.

Biorxiv : the Preprint Server for Biology, 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

Investigating the Correlation Between HLA-II Gene Polymorphism and RhE Alloimmunization in Pregnant Chinese Women.

Shang W et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2023

A novel RHCE*03 with 255G > A, 538G > A, and Exon 9 of RHD in a Chinese individual encodes for altered c and E antigens.

Wu CL et al.

Transfusion, 2023

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL20

High-Resolution Melting Curve Analysis to Predict Extended Blood Group Phenotypes among Thai Donors and Patients.

Nathalang O et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2022

The efficacy of ethnic specific blood groups genotyping for routine donor investigation and rare donor identification in Taiwan.

Yang MH et al.

Vox Sanguinis, 2022

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

Chang TC et al.

Blood Advances, 2020

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping.

Volkova E et al.

The Journal of Molecular Diagnostics : Jmd, 2019

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

Sequence diversity of the Rh blood group system in Basques.

Flores-Bello A et al.

European Journal of Human Genetics : Ejhg, 2018

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting.

Schoeman EM et al.

Transfusion, 2018

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Nasuno T et al.

Cancer Science, 2014

24219164 (PubMed )
Supplement: cas0105-0202-SD3.xlsx › TE-6

Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing.

Cao M et al.

Gene, 2013

D variants at the RhD vestibule in the weak D type 4 and Eurasian D clusters.

Flegel WA et al.

Transfusion, 2009

Deletion of arginine codon 229 in the Rhce gene alters e and f but not c antigen expression.

Chen YX et al.

Transfusion, 2004

A D(V)-like phenotype is obliterated by A226P in the partial D DBS.

Wagner FF et al.

Transfusion, 2001

Human D(IIIa) erythrocytes: RhD protein is associated with multiple dispersed amino acid variations.

Huang CH et al.

American Journal of Hematology, 1997

Frequencies of genetic variants of the Rh, Kell, Duffy, Kidd, MNS and Diego systems of northwest Rio Grande do Sul, Brazil.

Soares SDS et al.

Hematology, Transfusion and Cell Therapy, 0

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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."