Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.M167V
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SLC14A1

NM_015865.7:p.M167V

Associated Papers

Urea transporter evolution: deep conservation, recent adaptation in mammals, and maintenance of the Jka/Jkb polymorphism in the past ~ 110,000 years.

Cagliani R et al.

Biology Direct, 2026

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

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

Prediction of various blood group systems using Korean whole-genome sequencing data.

Hyun J et al.

Plos One, 2022

35657818 (PubMed )
Supplement: pone.0269481.s003.xlsx › 018

Genotyping and serotyping profiles showed weak Jka presentation for previously typed as Jknull donors.

Wu PC et al.

Vox Sanguinis, 2019

The Kidd (JK) Blood Group System.

Lawicki S et al.

Transfusion Medicine Reviews, 2017

A novel missense mutation nt737T>G of JK gene with Jk(a-b-) phenotype in Chinese blood donors.

Ma L et al.

Transfusion Medicine (oxford, England), 2015

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

Guo Z et al.

Transfusion, 2013

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

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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."