Varaico: Literature-Extracted Genetic Variants

Gene:CD44
Variant:p.R46P
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CD44

NM_000610.4:p.R46P

Associated Papers

Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.

Eberth S et al.

Bmc Research Notes, 2025

39955561 (PubMed )
Supplement: 13104_2025_7140_MOESM2_ESM.xlsx › cosmic_mut_bc_mut_gatk_hc_dbsnp

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

Molecular genotyping of Indian blood group antigens amongst regular voluntary blood donors of Surat city, Gujarat, India.

Shah A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2022

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

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

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Damgaard RB et al.

Cell, 2016

27523608 (PubMed )
Supplement: mmc2.xlsx › Homozygous_Variants_S2

Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle.

Lane WJ et al.

Transfusion, 2016

Molecular typing for the Indian blood group associated 252G>C single nucleotide polymorphism in a selected cohort of Australian blood donors.

Lopez GH et al.

Blood Transfusion = Trasfusione Del Sangue, 2015

The Indian blood group system.

Xu Q

Immunohematology, 2011

The molecular genetics of blood group polymorphism.

Daniels G

Human Genetics, 2009

Two missense mutations in the CD44 gene encode two new antigens of the Indian blood group system.

Poole J et al.

Transfusion, 2007

The molecular genetics of blood group polymorphism.

Daniels G

Transplant Immunology, 2005

Erythrocyte adhesion receptors: blood group antigens and related molecules.

Telen MJ

Transfusion Medicine Reviews, 2005

A blood group-related polymorphism of CD44 abolishes a hyaluronan-binding consensus sequence without preventing hyaluronan binding.

Telen MJ et al.

The Journal of Biological Chemistry, 1996

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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."