Varaico: Literature-Extracted Genetic Variants

Gene:GYPB
Variant:p.K90_A91Splc
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GYPB

NM_002100.6:p.K90_A91Splc

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

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

Molecular Blood Group Screening in Donors from Arabian Countries and Iran Using High-Throughput MALDI-TOF Mass Spectrometry and PCR-SSP.

Flesch BK et al.

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

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

A GYPB variant encoding an altered leader peptide leads to a weak S phenotype.

Cote J et al.

Transfusion, 2019

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

Saison C et al.

Transfusion, 2014

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