Varaico: Literature-Extracted Genetic Variants

Gene:CTLA4
Variant:p.F6Y
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CTLA4

NM_005214.5:p.F6Y

Associated Papers

Exploratory Study on Genetic Variants Related to Hydatidosis Susceptibility and Albendazole Pharmacogenetics in the Cusco Region in Peru.

Jaramillo-Valverde L et al.

Frontiers in Bioscience (scholar Edition), 2025

Clinical Impact of CTLA-4 Single-Nucleotide Polymorphism in DLBCL Patients Treated with CAR-T Cell Therapy.

Seipel K et al.

Current Oncology (toronto, Ont.), 2025

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Efficacy of CLT4A variants as immunoregulatory molecules among Vitiligo patients in Saudi Arabia.

Alshammary AF et al.

Scientific Reports, 2025

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )
Supplement: mmc2.xlsx › standard

Efficacy of immunotherapy in ARID1A-mutant solid tumors: a single-center retrospective study.

Zhou H et al.

Discover Oncology, 2024

38847966 (PubMed )
Supplement: 12672_2024_1074_MOESM2_ESM.xlsx › Sheet1

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

Efficacy of abatacept treatment in a patient with enteropathy carrying a variant of unsignificance in CTLA4 gene: A case report.

Musabak U et al.

World Journal of Clinical Cases, 2023

Evidence of Association between CTLA-4 Gene Polymorphisms and Colorectal Cancers in Saudi Patients.

Al-Harbi N et al.

Genes, 2023

Anti-Thymocyte Globulin (ATG)-Free Nonmyeloablative Haploidentical PBSCT Plus Post-Transplantation Cyclophosphamide Is a Safe and Efficient Treatment Approach for Pediatric Acquired Aplastic Anemia.

Chen RL et al.

International Journal of Molecular Sciences, 2022

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

Association of Cytotoxic T-Lymphocyte Antigen-4 Gene Polymorphism with Type 1 Diabetes Mellitus: In silico Analysis of Biological Features of CTLA-4 Protein on Ethiopian Population.

Ebrahim E et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2022

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Liu YX et al.

Frontiers in Cardiovascular Medicine, 2022

36277747 (PubMed )
Supplement: Data_Sheet_1.xls › Data_Sheet_1

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

Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case-Control Study.

Ismail NA et al.

Immunological Investigations, 2021

Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach.

Akhtar M et al.

Biology, 2021

Analysis of Relationships between Immune Checkpoint and Methylase Gene Polymorphisms and Outcomes after Unrelated Bone Marrow Transplantation.

Takahashi H et al.

Cancers, 2021

34206082 (PubMed )
Supplement: cancers-13-02752-s001.zip › cancers-1219178-supplementary.pdf

De-coding genetic risk variants in type 1 diabetes.

Shapiro MR et al.

Immunology and Cell Biology, 2021

CTLA-4 (+49A/G) Polymorphism in Type 1 Diabetes Children of Sudanese Population.

Khalid Kheiralla KE

Global Medical Genetics, 2021

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.

Noel DD et al.

Bioinformatics and Biology Insights, 2021

A Novel Mutation in the IL6R Gene Identified in a Family with Asthma Patients.

Trueb B et al.

Genetic Testing and Molecular Biomarkers, 2020

Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Hartman ML et al.

Cells, 2020

31936151 (PubMed )
Supplement: cells-09-00142-s001.pdf

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001

Silencing of Aberrant Secretory Protein Expression by Disease-Associated Mutations.

Tikhonova EB et al.

Journal of Molecular Biology, 2019

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

What did we learn from CTLA-4 insufficiency on the human immune system?

Mitsuiki N et al.

Immunological Reviews, 2019

Genetic association of CTLA4 gene with polycystic ovary syndrome in the Chinese Han population.

Su J et al.

Medicine, 2018

The Influence of Type 1 Diabetes Genetic Susceptibility Regions, Age, Sex, and Family History on the Progression From Multiple Autoantibodies to Type 1 Diabetes: A TEDDY Study Report.

Krischer JP et al.

Diabetes, 2017

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Lonjou C et al.

Bmc Cancer, 2017

28499365 (PubMed )
Supplement: 12885_2017_3314_MOESM1_ESM.xls › SupplTableS1.xls

Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family.

De Summa S et al.

Oncotarget, 2017

A genome-wide association study identifies six novel risk loci for primary biliary cholangitis.

Qiu F et al.

Nature Communications, 2017

28425483 (PubMed )
Supplement: ncomms14828-s1.pdf

The next generation of metastatic melanoma: uncovering the genetic variants for anti-BRAF therapy response.

Pinto R et al.

Oncotarget, 2016

Effect of CTLA-4 gene polymorphisms on long-term kidney allograft function in Han Chinese recipients.

Guo Y et al.

Oncotarget, 2016

Association of CTLA4 exon-1 polymorphism with the tumor necrosis factor-α in the risk of systemic lupus erythematosus among South Indians.

Katkam SK et al.

Human Immunology, 2016

Improving prediction of type 1 diabetes by testing non-HLA genetic variants in addition to HLA markers.

Steck AK et al.

Pediatric Diabetes, 2014

CTLA4 variants and haplotype contribute genetic susceptibility to myasthenia gravis in northern Chinese population.

Sun L et al.

Plos One, 2014

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.

Stoddard JL et al.

Frontiers in Immunology, 2014

25404929 (PubMed )
Supplement: Data_Sheet_1.XLSX › Table_S4

Cytotoxic T-lymphocyte antigen 4 (CTLA4) +49AG and CT60 gene polymorphisms in Alopecia Areata: a case-control association study in the Italian population.

Megiorni F et al.

Archives of Dermatological Research, 2013

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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."