Varaico: Literature-Extracted Genetic Variants

Gene:RHD
Variant:p.K267M
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RHD

NM_016124.6:p.K267M

Associated Papers

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

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

Transfusion management of Africans with RHD variants in China.

Yin Q et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2023

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.

Li K et al.

Nucleic Acids Research, 2022

35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC

RHD genotyping of serological weak D phenotypes in the Iranian blood donors and patients.

Oodi A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2020

Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R et al.

Nucleic Acids Research, 2018

30321405 (PubMed )
Supplement: gky979_supplemental_files.zip › Corrigendum_supplementary_table.xlsx › AllData

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.

Leman R et al.

Nucleic Acids Research, 2018

29750258 (PubMed )
Supplement: gky372_supplemental_files.zip › SPiCE_table_supp.R2.xlsx › Table_S3

A D+ blood donor with a novel RHD*D-CE(5-6)-D gene variant exhibits the low-frequency antigen RH23 (D(W) ) characteristic of the partial DVa phenotype.

Lopez GH et al.

Transfusion, 2016

Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.

Fichou Y et al.

Transfusion, 2015

Partial D phenotypes and genotypes in the Chinese population.

Ye L et al.

Transfusion, 2012

DCS-1, DCS-2, and DFV share amino acid substitutions at the extracellular RhD protein vestibule.

Flegel WA et al.

Transfusion, 2008

Molecular basis of D variants in Chinese persons.

Yan L et al.

Transfusion, 2007

RHD(T201R, F223V) cluster analysis in five different ethnic groups and serologic characterization of a new Ethiopian variant DARE, the DIII type 6, and the RHD(F223V).

Grootkerk-Tax MG et al.

Transfusion, 2006

Isolation, characterization, and family study of DTI, a novel partial D phenotype affecting the fourth external loop of D polypeptides.

Omi T et al.

Transfusion, 2002

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

Wagner FF et al.

Transfusion, 2001

DAL: a new partial RHD phenotype.

Noizat-Pirenne F et al.

Transfusion, 2001

Transcript analysis of D category phenotypes predicts hybrid Rh D-CE-D proteins associated with alteration of D epitopes.

Rouillac C et al.

Blood, 1995

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