Varaico: Literature-Extracted Genetic Variants

Gene:CCR5
Variant:p.C101*
Back to variants list

CCR5

NM_001394783.1:p.C101*

Associated Papers

Monogenic disorders of immunity: Common variants are not so rare.

Béziat V et al.

Cell Genomics, 2026

Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.

Marianski K et al.

Human Genetics, 2025

41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2

New genetic and epigenetic insights into the chemokine system: the latest discoveries aiding progression toward precision medicine.

Xu H et al.

Cellular & Molecular Immunology, 2023

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Wang T et al.

Ebiomedicine, 2022

35665681 (PubMed )
Supplement: mmc26.xlsx › Sheet1

Low CCR5 expression protects HIV-specific CD4+ T cells of elite controllers from viral entry.

Claireaux M et al.

Nature Communications, 2022

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

Association of Diverse Genotypes and Phenotypes of Immune Cells and Immunoglobulins With the Course of HIV-1 Infection.

Li L et al.

Frontiers in Immunology, 2018

Structural insight into a novel human CCR5-V130I variant associated with resistance to HIV-1 infection.

Stambouli N et al.

Journal of Biomolecular Structure & Dynamics, 2014

Mutations in C-C chemokine receptor type 5 (CCR5) in South African individuals.

Barmania F et al.

International Journal of Infectious Diseases : Ijid : Official Publication of the International Society for Infectious Diseases, 2013

Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis.

Al-Jaberi SA et al.

Gene, 2013

Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels.

Motazacker MM et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2013

Host genetics influences on HIV type-1 disease.

Fellay J

Antiviral Therapy, 2009

Evolution of pharmacogenomics.

Somogy A

Proceedings of the Western Pharmacology Society, 2008

Identification of the CCR5-Delta32 HIV resistance allele and new mutations of the CCR5 gene in different Tunisian populations.

Jlizi A et al.

Human Immunology, 2007

A novel 24-base pair deletion in the coding region of CCR5 in an African population.

Masquelier C et al.

Aids (london, England), 2007

Genetics of resistance to HIV infection: Role of co-receptors and co-receptor ligands.

Arenzana-Seisdedos F et al.

Seminars in Immunology, 2006

Genomics meets HIV-1.

Telenti A et al.

Nature Reviews. Microbiology, 2006

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

Use of a combined ex vivo/in vivo population approach for screening of human genes involved in the human immunodeficiency virus type 1 life cycle for variants influencing disease progression.

Bleiber G et al.

Journal of Virology, 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

Intra- and interspecific variation of the CCR5 gene in higher primates.

Zhang YW et al.

Molecular Biology and Evolution, 2003

Polymorphisms in the CCR5 coding and noncoding regions among HIV type 1-exposed, persistently seronegative female sex-workers from Thailand.

Yang C et al.

Aids Research and Human Retroviruses, 2003

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."