Varaico: Literature-Extracted Genetic Variants

Gene:CCR5
Variant:p.R223Q
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CCR5

NM_001394783.1:p.R223Q

Associated Papers

Next-generation sequencing of CCR5, CXCR4, and IFNAR1 variants in relation to HIV-1 disease progression and ART response.

Pekkoc-Uyanik KC et al.

Scientific Reports, 2025

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Resistance to Human Immunodeficiency Virus 1 Infection Conferred by a Compound CCR5Δ32 and CCR5 C20S Heterozygote.

Alkhatib B et al.

The Journal of Infectious Diseases, 2023

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

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

Cantalupo S et al.

International Journal of Molecular Sciences, 2021

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

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results

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

A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.

Awata T et al.

Biochemical and Biophysical Research Communications, 2013

HIV type 1 coreceptor tropism, CCR5 genotype, and integrase inhibitor resistance profiles in Vietnam: implications for the introduction of new antiretroviral regimens.

Luu QP et al.

Aids Research and Human Retroviruses, 2012

The genetic variation of CCR5, CXCR4 and SDF-1 in three Chinese ethnic populations.

Liu Y et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2012

Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5*D32 frequency in Euro-Brazilians.

Boldt AB et al.

Genetics and Molecular Biology, 2009

Effects of CCR2 and CCRS polymorphisms on HIV-1 infection in Thai females.

Wichukchinda N et al.

Journal of Acquired Immune Deficiency Syndromes (1999), 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

Polymorphisms in CCR5 chemokine receptor gene in Japan.

Liu H et al.

International Journal of Immunogenetics, 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

Genotypes and haplotypes of CCR2 and CCR3 genes in Japanese cedar pollinosis.

Nakamura H et al.

International Archives of Allergy and Immunology, 2007

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

Arenzana-Seisdedos F et al.

Seminars in Immunology, 2006

[Single nucleotide polymorphisms of HIV coreceptor CCR5 gene in Chinese Yi ethnic group and its association with HIV infection].

Ma LY et al.

Zhonghua Yi Xue Za Zhi, 2005

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

Biochemical and HIV-1 coreceptor properties of K26R, a new CCR5 Variant in China's Sichuan population.

Ma L et al.

Journal of Acquired Immune Deficiency Syndromes (1999), 2005

Functional analysis of naturally occurring mutations in the open reading frame of CCR5 in HIV-infected Chinese patients and healthy controls.

Zhao XY et al.

Journal of Acquired Immune Deficiency Syndromes (1999), 2005

32-nucleotide deletion, associated with defence against hiv/aids, is a predominant mutation of CCR5 gene in the population of Georgia.

Kamkamidze G et al.

Georgian Medical News, 2005

New CCR5 variants associated with reduced HIV coreceptor function in southeast Asia.

Capoulade-Métay C et al.

Aids (london, England), 2004

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

Novel mutations identified using a comprehensive CCR5-denaturing gradient gel electrophoresis assay.

Petersen DC et al.

Aids (london, England), 2001

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

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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."