Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.S291P
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SLC14A1

NM_015865.7:p.S291P

Associated Papers

Resolving Genotype-Phenotype Discrepancies of the Kidd Blood Group System Using Long-Read Nanopore Sequencing.

Gueuning M et al.

Biomedicines, 2024

High-Throughput Next-Generation Sequencing of the Kidd Blood Group: Unexpected Antigen Expression Properties of Four Alleles and Detection of Novel Variants.

Vorholt SM et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2023

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

The Kidd (JK) Blood Group System.

Lawicki S et al.

Transfusion Medicine Reviews, 2017

A rare case of anti-jk3 antibody detected on pre-transfusion investigation.

Yousuf R et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2014

Clinical aspects of urea transporters.

Ran J et al.

Sub-cellular Biochemistry, 2014

Nomenclature for red blood cell blood group alleles.

Storry JR

Transfusion, 2013

The mutation spectrum of the JK-null phenotype in the Chinese population.

Guo Z et al.

Transfusion, 2013

A novel JKA allele, nt561C>A, associated with silencing of Kidd expression.

Horn T et al.

Transfusion, 2012

Genomic characterisation of the Jk(a-b-) phenotype in Thai blood donors.

Sriwanitchrak P et al.

Blood Transfusion = Trasfusione Del Sangue, 2012

Characterization of Jk(a+(weak)): a new blood group phenotype associated with an altered JK*01 allele.

Wester ES et al.

Transfusion, 2011

Two novel Jk(null) alleles derived from 222C>A in Exon 5 and 896G>A in Exon 9 of the JK gene.

Liu HM et al.

Transfusion, 2009

Erythroid urea transporter deficiency due to novel JKnull alleles.

Wester ES et al.

Transfusion, 2008

Partial deletion in the JK locus causing a Jk(null) phenotype.

Lucien N et al.

Blood, 2002

Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.

Irshaid NM et al.

British Journal of Haematology, 2002

Screening of six racial groups for the intron 5 G-->A 3' splice acceptor mutation responsible for the polynesian kidd (a-b-) phenotype: the null mutation is not always associated with the JKB allele.

Ekman GC et al.

Transfusion, 2000

Genomic characterization of the kidd blood group gene:different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns.

Irshaid NM et al.

Transfusion, 2000

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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."