Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.D280N
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SLC14A1

NM_015865.7:p.D280N

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

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

A novel missense mutation c.359G>A in SLC14A1, associated with Jk(a-b-) phenotype in a Chinese blood donor.

Li A 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

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

Drinnon V et al.

Transfusion, 2025

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_S5

Urea Transporters and Their Gene Mutations in Diseases.

Huang B et al.

Sub-cellular Biochemistry, 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

Computational exploration of SLC14A1 genetic variants through structure modeling, protein-ligand docking, and molecular dynamics simulation.

Sultana T et al.

Biochemistry and Biophysics Reports, 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

Development of anti-Jk3 associated with silenced Kidd antigen expression and a novel single nucleotide variant of the JK gene.

Manrai PA et al.

Immunohematology, 2021

Blood group genotyping in alloimmunized multi-transfused thalassemia patients from Iran.

Sarihi R et al.

Molecular Genetics & Genomic Medicine, 2021

Jknull alleles in two patients with anti-Jk3.

Allhoff W et al.

Blood Transfusion = Trasfusione Del Sangue, 2021

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.

Dinardo CL et al.

Transfusion, 2021

DNA sequence analysis and Jk blood group genotype-phenotype assessment.

Liang S et al.

Annals of Translational Medicine, 2020

Blood group typing from whole-genome sequencing data.

Paganini J et al.

Plos One, 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

Development and evaluation of a transfusion medicine genome wide genotyping array.

Guo Y et al.

Transfusion, 2019

A Caucasian JK*A/JK*B woman with Jk(a+b-) red blood cells, anti-Jkb, and a novel JK*B allele c.1038delG.

Ramsey G et al.

Immunohematology, 2016

Molecular genetic analysis of the Jk(a-b-) phenotype in Chinese: A novel silent recessive JK allele.

Zhang A et al.

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

Red blood cell antigen genotype analysis for 9087 Asian, Asian American, and Native American blood donors.

Delaney M et al.

Transfusion, 2015

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

Genome-wide detection of allelic gene expression in hepatocellular carcinoma cells using a human exome SNP chip.

Park YM et al.

Gene, 2014

JK null alleles identified from Japanese individuals with Jk(a−b−) phenotype.

Onodera T et al.

Vox Sanguinis, 2014

Differential urinary specific gravity as a molecular phenotype of the bladder cancer genetic association in the urea transporter gene, SLC14A1.

Koutros S et al.

International Journal of Cancer, 2013

Blood group genotyping in multi-transfused patients.

Bakanay SM et al.

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

SNP-based large-scale identification of allele-specific gene expression in human B cells.

Song MY et al.

Gene, 2012

European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.

Rafnar T et al.

Human Molecular Genetics, 2011

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

Wester ES et al.

Transfusion, 2011

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

The molecular genetics of blood group polymorphism.

Daniels G

Human Genetics, 2009

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

The molecular genetics of blood group polymorphism.

Daniels G

Transplant Immunology, 2005

Antigenic and functional properties of the human red blood cell urea transporter hUT-B1.

Lucien N et al.

The Journal of Biological Chemistry, 2002

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

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

Genomic typing of the Kidd blood group locus by a single-tube allele-specific primer PCR technique.

Irshaid NM et al.

British Journal of Haematology, 1998

Characterization of the gene encoding the human Kidd blood group/urea transporter protein. Evidence for splice site mutations in Jknull individuals.

Lucien N et al.

The Journal of Biological Chemistry, 1998

Molecular insights into blood groups and implications for blood transfusion.

Reid ME et al.

Current Opinion in Hematology, 1998

The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility.

Olivès B et al.

Human Molecular Genetics, 1997

Lack of association between Kidd blood group system and chronic kidney disease.

Capriolli TV et al.

Revista Brasileira De Hematologia E Hemoterapia, 0

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