Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.R90Q
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CYBA

NM_000101.4:p.R90Q

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Lyn

Targeted gene editing and near-universal cDNA insertion of CYBA and CYBB as a treatment for chronic granulomatous disease.

Wolff JH et al.

Nature Communications, 2025

40796771 (PubMed )
Supplement: 41467_2025_62738_MOESM1_ESM.pdf

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Lyn

Characterization of missense mutations in the NADPH oxidase partner p22phox in the A22° subtype of chronic granulomatous disease.

Kawai C et al.

Microbiology and Immunology, 2023

Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation.

Moser LM et al.

British Journal of Haematology, 2023

Regulation of Derlin-1-mediated degradation of NADPH oxidase partner p22phox by thiol modification.

Miyano K et al.

Redox Biology, 2022

Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.

Lashkari HP et al.

Indian Journal of Pediatrics, 2022

Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.

Bakri FG et al.

Frontiers in Immunology, 2021

Colitis susceptibility in mice with reactive oxygen species deficiency is mediated by mucus barrier and immune defense defects.

Aviello G et al.

Mucosal Immunology, 2019

Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.

Kulkarni M et al.

Journal of Clinical Immunology, 2018

A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017).

Zhou Q et al.

Journal of Clinical Immunology, 2018

Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.

Badalzadeh M et al.

International Journal of Immunogenetics, 2017

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Mutational analysis reveals distinct features of the Nox4-p22 phox complex.

von Löhneysen K et al.

The Journal of Biological Chemistry, 2008

Genetics and immunopathology of chronic granulomatous disease.

Stasia MJ et al.

Seminars in Immunopathology, 2008

Common Infections and Target Organs Associated with Chronic Granulomatous Disease in Iran.

Mortaz E et al.

International Archives of Allergy and Immunology, 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."