Varaico: Literature-Extracted Genetic Variants

Gene:CCR5
Variant:p.R319H
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CCR5

NM_001394783.1:p.R319H

Associated Papers

Convergent transcriptomic and genomic evidence supporting a dysregulation of CXCL16 and CCL5 in Alzheimer's disease.

Li X et al.

Alzheimer's Research & Therapy, 2023

36670424 (PubMed )
Supplement: 13195_2022_1159_MOESM2_ESM.xlsx › rare_variants

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.

Wang J et al.

Frontiers in Pediatrics, 2020

33344382 (PubMed )
Supplement: Table_2.XLSX › Result

Genetic Polymorphisms in the Open Reading Frame of the CCR5 gene From HIV-1 Seronegative and Seropositive Individuals From National Capital Regions of India.

Ronsard L et al.

Scientific Reports, 2019

G protein-coupled receptor trafficking in health and disease: lessons learned to prepare for therapeutic mutant rescue in vivo.

Conn PM et al.

Pharmacological Reviews, 2007

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

Genetics of HIV-1 infection: chemokine receptor CCR5 polymorphism and its consequences.

Carrington M et al.

Human Molecular Genetics, 1999

Association of the CCR5Δ32 Mutant Genotype with Sickle Cell Disease in Egyptian Patients.

El Sissy MH et al.

Hemoglobin, 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."