Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.P196P
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SLC14A1

NM_015865.7:p.P196P

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-mmc2.xlsx › Table11

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 Jk-null allele derived from c.383T>C in exon 5 of the SLC14A1 gene.

Zhao Y et al.

Transfusion, 2025

The novel JK*02(588G;929G) allele in an Indian patient dramatically impairs the expression of the Jkb antigen.

Bénech C et al.

Transfusion, 2025

Promoter polymorphisms in the JK*01 W.06 allele associated with the Jk(a + w) weak antigen phenotype.

Liang S et al.

Bmc Immunology, 2025

[Molecular Biological Mechanism and Transfusion Strategy of a Jk(a-b-) Family].

Li XY et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2025

JK*01(307C) encodes a JK null allele.

Drinnon V et al.

Transfusion, 2025

SLC14A1 gene sequencing shows the JK*01W.06 allele in a JK1 patient with an anti-JK1.

Soleimani R et al.

Hematology, Transfusion and Cell Therapy, 2024

A novel homozygous splice-site mutation of JK gene leads to Jk(a-b-) phenotype.

Yang J et al.

Transfusion Medicine (oxford, England), 2024

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

Gueuning M et al.

Biomedicines, 2024

Two new JK silencing alleles identified by single molecule sequencing with 20-Kb long-reads.

Isa K et al.

Transfusion, 2023

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

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

Wester ES et al.

Transfusion, 2011

Erythroid urea transporter deficiency due to novel JKnull alleles.

Wester ES et al.

Transfusion, 2008

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