Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.V174A
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CYBA

NM_000101.4:p.V174A

Associated Papers

Bacillus Calmette-Guérin (BCG) Infections at High Frequency in Both AR-CGD and X-CGD Patients Following BCG Vaccination.

Ishikawa T et al.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America, 2021

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.

van Deuren RC et al.

Genome Medicine, 2021

34034819 (PubMed )
Supplement: 13073_2021_907_MOESM1_ESM.xlsx › Table_S3

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM15_ESM.xlsx › Supplementary_Data_12

The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.

Diplas BH et al.

Nature Communications, 2018

29802247 (PubMed )
Supplement: 41467_2018_4448_MOESM11_ESM.xlsx › 8_SNV_WGS

NIPS, a 3D network-integrated predictor of deleterious protein SAPs, and its application in cancer prognosis.

Wang B et al.

Scientific Reports, 2018

29662108 (PubMed )
Supplement: 41598_2018_24286_MOESM1_ESM.pdf

Identification of novel genetic loci GAL3ST4 and CHGB involved in susceptibility to leprosy.

Yuan Y et al.

Scientific Reports, 2017

The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.

Sun J et al.

Bmc Medical Genetics, 2017

Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.

Tode N et al.

Cancer Science, 2017

28294470 (PubMed )
Supplement: CAS-108-1263-s001.pdf

Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.

Ashton JJ et al.

Inflammatory Bowel Diseases, 2016

CYBA encoding p22(phox), the cytochrome b558 alpha polypeptide: gene structure, expression, role and physiopathology.

Stasia MJ

Gene, 2016

Evolutionary dynamics of the human NADPH oxidase genes CYBB, CYBA, NCF2, and NCF4: functional implications.

Tarazona-Santos E et al.

Molecular Biology and Evolution, 2013

Application of the whole-transcriptome shotgun sequencing approach to the study of Philadelphia-positive acute lymphoblastic leukemia.

Iacobucci I et al.

Blood Cancer Journal, 2012

22829256 (PubMed )
Supplement: bcj20126x9.pdf

Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation.

Bedard K et al.

Human Mutation, 2009

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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."