Varaico: Literature-Extracted Genetic Variants

Gene:GYPB
Variant:p.T77M
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GYPB

NM_002100.6:p.T77M

Associated Papers

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

Description of the first case of c.137-8C>T GYPB mutation not associated to the GYPB(P2) allele.

Collodel L et al.

Blood Transfusion = Trasfusione Del Sangue, 2024

Uncommon S-s-U+ phenotype encoded by two novel GYPB alleles.

Lomas-Francis C et al.

Transfusion, 2023

First report of a null allele on a GYPB*s background: GYPB*s(37 + 4_8delAGTGA).

Thonier VL et al.

Transfusion, 2022

A pair of S-silencing single nucleotide variants cis-linked on GYPB.

Lapadat R et al.

Transfusion, 2021

Two Prevalent ∼100-kb GYPB Deletions Causative of the GPB-Deficient Blood Group MNS Phenotype S-s-U- in Black Africans.

Gassner C et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020

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

"Molecular analysis of the rare S-s- red blood cell phenotype in blood donors and patients in south-east Brazil".

Santos FLS et al.

Vox Sanguinis, 2019

Genotyping of 28 blood group alleles in blood donors from Mali: Prediction of rare phenotypes.

Ba A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2016

A novel GYPB-A-B hybrid gene responsible for Ss and MN typing discrepancies.

Willemetz A et al.

Transfusion, 2015

Family study of a Swiss patient uncovered a novel genetic basis for the S-s-U+(var) phenotype.

Saison C et al.

Transfusion, 2014

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.

Di Cristofaro J et al.

The Journal of Molecular Diagnostics : Jmd, 2010

Determination of 24 minor red blood cell antigens for more than 2000 blood donors by high-throughput DNA analysis.

Hashmi G et al.

Transfusion, 2007

Mutations in GYPB exon 5 drive the S-s-U+(var) phenotype in persons of African descent: implications for transfusion.

Storry JR et al.

Transfusion, 2003

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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."