Varaico: Literature-Extracted Genetic Variants

Gene:KEL
Variant:p.T193M
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KEL

NM_000420.3:p.T193M

Associated Papers

Two new KEL null alleles in white blood donors.

Matteocci A et al.

Transfusion, 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

Cellular heterogeneity and therapeutic response profiling of human IDH + glioma stem cell cultures.

Chambwe N et al.

Scientific Reports, 2025

41423517 (PubMed )
Supplement: 41598_2025_33082_MOESM2_ESM.xlsx › GSCvariants

A Validation Approach for Determining Fetal Blood Groups Non-Invasively by High-Sensitive Next-Generation Sequencing.

Wienzek-Lischka S et al.

Journal of Clinical Medicine, 2025

Cellular heterogeneity and therapeutic response profiling of human IDH+ glioma stem cell cultures.

Chambwe N et al.

Biorxiv : the Preprint Server for Biology, 2025

40766425 (PubMed )
Supplement: media-2.xlsx › GSCvariants

Ethnic diversity in Chilean blood groups: A comprehensive analysis of genotypes, phenotypes, alleles and the immunogenic potential of antigens in northern, southern and central regions.

Núñez Ahumada MA et al.

Vox Sanguinis, 2024

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

A structure-based in silico analysis of the Kell blood group system.

Mayr G et al.

Frontiers in Immunology, 2024

Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.

Lee NY et al.

Cancers, 2022

35954343 (PubMed )
Supplement: cancers-14-03680-s001.zip › NPC_WES_study_Table_S3.xlsx › All

High-Resolution Melting Curve Analysis to Predict Extended Blood Group Phenotypes among Thai Donors and Patients.

Nathalang O et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2022

Novel KEL*02M allele in Austria encoding a Kmod phenotype.

Polin H et al.

Transfusion, 2022

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

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

Sarihi R et al.

Molecular Genetics & Genomic Medicine, 2021

Risk Minimization of Hemolytic Disease of the Fetus and Newborn Using Droplet Digital PCR Method for Accurate Fetal Genotype Assessment of RHD, KEL, and RHCE from Cell-Free Fetal DNA of Maternal Plasma.

Vodicka R et al.

Diagnostics (basel, Switzerland), 2021

Blood groups in Native Americans: a look beyond ABO and Rh.

Rodrigues MMO et al.

Genetics and Molecular Biology, 2021

Next-Generation Sequencing Technologies in Blood Group Typing.

Fürst D et al.

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

Modified expression of the KEL2 (k) blood group antigen attributed to p.Leu196Val amino acid change three residues from the K/k antigen polymorphism site: implications for donor screening.

Millard GM et al.

Transfusion, 2019

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.

Alkhater RA et al.

Annals of Clinical and Translational Neurology, 2018

30564627 (PubMed )
Supplement: ACN3-5-1617-s002.xlsx › SNVs

Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project.

Montemayor-Garcia C et al.

Transfusion, 2018

Novel alleles at the Kell blood group locus that lead to Kell variant phenotype in the Dutch population.

Ji Y et al.

Transfusion, 2015

Three missense mutations found in the KEL gene lead to K(mod) or K0 red blood cell phenotypes.

Matteocci A et al.

Transfusion, 2014

Identification of a novel Kmod -1 allele encoded by 977C>T (Pro326Leu).

Polin H et al.

Transfusion, 2014

Three novel alleles in the Kell blood group system resulting in the Knull phenotype and the first in a Native American.

Moulds JM et al.

Transfusion, 2013

An easy and efficient strategy for KEL genotyping in a multiethnic population.

Arnoni CP et al.

Revista Brasileira De Hematologia E Hemoterapia, 2013

Kell blood group system polymorphism in an urban Tunisian population.

Bani M et al.

Biochemical Genetics, 2011

KEL*02 alleles with alterations in and around exon 8 in individuals with apparent KEL:1,-2 phenotypes.

Wester ES et al.

Vox Sanguinis, 2010

The molecular genetics of blood group polymorphism.

Daniels G

Human Genetics, 2009

Two novel null alleles of the KEL gene detected in two Chinese women with the K(null) phenotype.

Yang Y et al.

Transfusion Medicine (oxford, England), 2009

A KEL gene encoding serine at position 193 of the Kell glycoprotein results in expression of KEL1 antigen.

Poole J et al.

Transfusion, 2006

The molecular genetics of blood group polymorphism.

Daniels G

Transplant Immunology, 2005

The Kell protein of the common K2 phenotype is a catalytically active metalloprotease, whereas the rare Kell K1 antigen is inactive. Identification of novel substrates for the Kell protein.

Clapéron A et al.

The Journal of Biological Chemistry, 2005

Functional and structural aspects of the Kell blood group system.

Lee S et al.

Transfusion Medicine Reviews, 2000

Identification of a defect in the intracellular trafficking of a Kell blood group variant.

Yazdanbakhsh K et al.

Blood, 1999

Molecular basis of Kell blood group phenotypes.

Lee S

Vox Sanguinis, 1997

Frequencies of genetic variants of the Rh, Kell, Duffy, Kidd, MNS and Diego systems of northwest Rio Grande do Sul, Brazil.

Soares SDS et al.

Hematology, Transfusion and Cell Therapy, 0

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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."