Varaico: Literature-Extracted Genetic Variants

Gene:C8A
Variant:p.A3D
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C8A

NM_000562.3:p.A3D

Associated Papers

Cross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD.

Du M et al.

Science Advances, 2026

41686896 (PubMed )
Supplement: sciadv.aeb5665_tables_s1_to_s37.zip › sciadv.aeb5665_tables_s1_to_s37.xlsx › S11

Genetic Insights into Circulating Complement Proteins in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Potential Inflammatory Subgroup.

Maya J et al.

International Journal of Molecular Sciences, 2026

41683992 (PubMed )
Supplement: ijms-27-01574-s001.zip › Supplementary_Tables_IJMS_Complement.xlsx › S4_C3_Top_Hits

FCRL3 is an immunoregulatory receptor that restrains the activation of human memory T lymphocytes.

Bianchi N et al.

The Journal of Experimental Medicine, 2026

41091129 (PubMed )
Supplement: jem_20242474_datas2.xlsx › Imputed_Values

Restoration of PKM1 improves functional maturation of human stem-cell derived-β cell by regulating PEP metabolism.

Lin H et al.

Nature Communications, 2025

41423449 (PubMed )
Supplement: 41467_2025_67635_MOESM8_ESM.xlsx › Figure6E__right__enrichment_

Human assembloids recapitulate periportal liver tissue in vitro.

Yuan L et al.

Nature, 2025

41407857 (PubMed )
Supplement: 41586_2025_9884_MOESM7_ESM.zip › 2024-10-22623C-s7 › Supplementary_Dataset_1.xlsx › S1_IPA_analysis_input

Depletion of individual dietary amino acids induce distinct metabolic and chromatin states.

Haws SA et al.

The Journal of Biological Chemistry, 2025

41419194 (PubMed )
Supplement: mmc4.xlsx › Shared_EAA_DE_GO-BP_Enrichment

Proteolytic profiling of human plasma reveals an immunoactive complement C3 fragment.

Demir F et al.

The Embo Journal, 2025

41145914 (PubMed )
Supplement: 44318_2025_598_MOESM13_ESM.xlsx › Dataset_EV11-InVitro_GluC

Scalable and accurate rare variant meta-analysis with Meta-SAIGE.

Park E et al.

Nature Genetics, 2025

41266648 (PubMed )
Supplement: 41588_2025_2403_MOESM8_ESM.xlsx › Figure5-B

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM12_ESM.xlsx › S10C_KEGG_pathways

SpliPath enhances disease gene discovery in case-control analyses of rare splice-altering genetic variants.

Wang Y et al.

Cell Reports Methods, 2025

40967210 (PubMed )
Supplement: mmc5.xlsx › ST4B

Comprehensive and Site-Specific Characterization of Protein N-Glycosylation in AD Samples Reveals Its Potential Roles in Protein Aggregation and Synaptic Dysfunction.

Xu X et al.

Analytical Chemistry, 2025

41042700 (PubMed )
Supplement: ac5c02455_si_005.xlsx › Sheet1

Aberrant alternative splicing in alcoholic hepatitis: regulatory roles of RBPs and sQTLs.

Zhao J et al.

Bmc Gastroenterology, 2025

41087919 (PubMed )
Supplement: 12876_2025_4339_MOESM11_ESM.xlsx › Sheet1

Spatial proteomics to discover aging-associated alterations in the renal tubulointerstitium.

Mun DG et al.

Clinical Proteomics, 2025

41062932 (PubMed )
Supplement: 12014_2025_9550_MOESM2_ESM.xlsx › TableS2

African Green Monkeys Respond to Synthetic Aβ Oligomers with Persistent Alzheimer's-like Activation.

Brown BRP et al.

Biorxiv : the Preprint Server for Biology, 2025

41279249 (PubMed )
Supplement: media-1.zip › Tables › TableS1_Fragpipeoutput_Fig2.xlsx › Sheet_1-2_-_CSF_overlap

The NuRD component CHD3 promotes BMP signalling during cranial neural crest cell specification.

Mitchell ZH et al.

Embo Reports, 2025

40835974 (PubMed )
Supplement: 44319_2025_555_MOESM10_ESM.zip › EMBOR-2025-61878-T_SourceDataForFigure3 › 3D › CHD3_WT_D18_ATAC_specific_peaks_nearest_genes_annotated.xlsx › CHD3_WT_D18_ATAC_specific_peaks

Quantitative proteomics of formalin-fixed, paraffin-embedded cardiac specimens uncovers protein signatures of specialized regions and patient groups.

Achter JS et al.

Nature Cardiovascular Research, 2025

41006917 (PubMed )
Supplement: 44161_2025_721_MOESM7_ESM.xlsx › All_proteins

Cerebrospinal fluid proteomic associations of APOE genotypes reveal distinct protective and risk mechanisms for Alzheimer's disease.

Vromen EM et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025

41085205 (PubMed )
Supplement: ALZ-21-e70738-s001.xlsx › S_Table_5

Myeloid-Derived Growth Factor-Regulated Oncogenesis in Lung Adenocarcinoma Is Associated with EGFR Status and Cancer Aggressiveness.

Hsiao TF et al.

Journal of Proteome Research, 2025

40752010 (PubMed )
Supplement: pr5c00385_si_004.xlsx › MT-L-T

Neurodevelopmental origins of structural and psychomotor defects in CXCR4-linked primary immunodeficiency.

Demenego G et al.

Neuron, 2025

40482638 (PubMed )
Supplement: mmc2.xlsx › Table_1

Common origin and somatic mutation patterns of composite lymphomas and leukemias.

Berg V et al.

Leukemia, 2025

40404986 (PubMed )
Supplement: 41375_2025_2549_MOESM2_ESM.xlsx › 1_CLL

Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID-19.

Urbanski AH et al.

Journal of Medical Virology, 2025

40817859 (PubMed )
Supplement: JMV-97-e70556-s001.xlsx › MISC_KEGG

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-11.xlsx › S10C_KEGG_pathways

Regulatory T cells attenuate chronic inflammation and cardiac fibrosis in hypertrophic cardiomyopathy.

Wang YJ et al.

Science Translational Medicine, 2025

40632839 (PubMed )
Supplement: scitranslmed.adq3516_data_files_s1_to_s4.zip › adq3516_data_file_s2.xlsx › Cardiomyocytes

Advancing the Biochemical Understanding of Maple Syrup Urine Disease and the Impact of Liver Transplantation: A Pilot Study.

Fortis SP et al.

Journal of Proteome Research, 2025

40232068 (PubMed )
Supplement: pr5c00166_si_001.xlsx › 4_Proteomics

Landscape of rare-allele variants in cultivated and wild soybean genomes.

Liu Z et al.

The Plant Genome, 2025

40148071 (PubMed )
Supplement: TPG2-18-e70020-s003.xlsx › Sheet1

The RNA Binding Protein Bcas2 is Required for Antibody Class Switch in Activated-B Cells.

Chen Y et al.

Exploration (beijing, China), 2025

40585763 (PubMed )
Supplement: EXP2-5-270015-s003.xlsx › IgM-H.vs.Control

Genomic and immune profiling of breast cancer brain metastases.

Van Swearingen AED et al.

Acta Neuropathologica Communications, 2025

40355907 (PubMed )
Supplement: 40478_2025_2001_MOESM4_ESM.xlsx › HER2-enriched

Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.

Poli MC et al.

Journal of Human Immunity, 2025

Genomic profiling of aggressive pathologic features in lung adenocarcinoma.

Lin YD et al.

Lung Cancer (amsterdam, Netherlands), 2025

Commander complex regulates lysosomal function and is implicated in Parkinson's disease risk.

Minakaki G et al.

Science (new York, N.y.), 2025

40209002 (PubMed )
Supplement: science.adq6650_tables_s1_to_s4.zip › adq6650_Table_S1.xlsx › Sheet1

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_4.

Clinical exome sequencing for carrier screening in assisted reproductive technology and sperm donation.

Cai H et al.

Journal of Assisted Reproduction and Genetics, 2025

Genetic Terminal Complement Deficiency in Israeli Bedouins With Kidney Failure.

Chowers G et al.

Kidney International Reports, 2025

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.

Taniguchi K et al.

Molecular Genetics & Genomic Medicine, 2025

40078074 (PubMed )
Supplement: MGG3-13-e70092-s002.xlsx › Supplementary_Table_4

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Human skeletal muscle fiber heterogeneity beyond myosin heavy chains.

Moreno-Justicia R et al.

Nature Communications, 2025

39971958 (PubMed )
Supplement: 41467_2025_56896_MOESM12_ESM.xlsx › supplementary_dataset_10

Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus.

Sayadi A et al.

Lupus Science & Medicine, 2025

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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."