Varaico: Literature-Extracted Genetic Variants

Gene:CCR5
Variant:p.A73V
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CCR5

NM_001394783.1:p.A73V

Associated Papers

Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.

Lehmkuhl P et al.

Cellular & Molecular Immunology, 2021

34059789 (PubMed )
Supplement: 41423_2021_701_MOESM2_ESM.xlsx › 270

Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19.

Cantalupo S et al.

International Journal of Molecular Sciences, 2021

Predominance of the heterozygous CCR5 delta-24 deletion in African individuals resistant to HIV infection might be related to a defect in CCR5 addressing at the cell surface.

Arendt V et al.

Journal of the International Aids Society, 2019

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

Mutation-Induced Functional Alterations of CCR6.

Julian B et al.

The Journal of Pharmacology and Experimental Therapeutics, 2017

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest.

Lam L et al.

Heartrhythm Case Reports, 2015

28491533 (PubMed )
Supplement: mmc1.docx

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A09R-01A.domain

Structure-function studies on non-synonymous SNPs of chemokine receptor gene implicated in cardiovascular disease: a computational approach.

Sai Ramesh A et al.

The Protein Journal, 2013

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

Tao YX

Pharmacology & Therapeutics, 2006

Variants of CCR5, which are permissive for HIV-1 infection, show distinct functional responses to CCL3, CCL4 and CCL5.

Dong HF et al.

Genes and Immunity, 2005

The differential sensitivity of human and rhesus macaque CCR5 to small-molecule inhibitors of human immunodeficiency virus type 1 entry is explained by a single amino acid difference and suggests a mechanism of action for these inhibitors.

Billick E et al.

Journal of Virology, 2004

The effect of genetic variation in chemokines and their receptors on HIV transmission and progression to AIDS.

O'Brien SJ et al.

Immunological Reviews, 2000

Multiple nonfunctional alleles of CCR5 are frequent in various human populations.

Blanpain C et al.

Blood, 2000

Sequence evolution of the CCR5 chemokine receptor gene in primates.

Zhang YW et al.

Molecular Biology and Evolution, 1999

Naturally occurring CCR5 extracellular and transmembrane domain variants affect HIV-1 Co-receptor and ligand binding function.

Howard OM et al.

The Journal of Biological Chemistry, 1999

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

Carrington M et al.

Human Molecular Genetics, 1999

Novel alleles of the chemokine-receptor gene CCR5.

Carrington M et al.

American Journal of Human Genetics, 1997

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."