Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.E44K
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SLC14A1

NM_015865.7:p.E44K

Associated Papers

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

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

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

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

Breakpoint regions of an RHD-CE(4-9)-D allele and a rare JK allele in a Pacific Islander individual.

Srivastava K et al.

Blood Transfusion = Trasfusione Del Sangue, 2024

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

The efficacy of ethnic specific blood groups genotyping for routine donor investigation and rare donor identification in Taiwan.

Yang MH et al.

Vox Sanguinis, 2022

An open-source python library for detection of known and novel Kell, Duffy and Kidd variants from exome sequencing.

Montemayor C et al.

Vox Sanguinis, 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

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

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

Liang S et al.

Annals of Translational Medicine, 2020

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

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

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

Clinical aspects of urea transporters.

Ran J et al.

Sub-cellular Biochemistry, 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

Nomenclature for red blood cell blood group alleles.

Storry JR

Transfusion, 2013

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

Sriwanitchrak P et al.

Blood Transfusion = Trasfusione Del Sangue, 2012

A genome-wide association study of bladder cancer identifies a new susceptibility locus within SLC14A1, a urea transporter gene on chromosome 18q12.3.

Garcia-Closas M et al.

Human Molecular Genetics, 2011

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