Varaico: Literature-Extracted Genetic Variants

Gene:MRC1
Variant:p.G396S
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MRC1

NM_002438.4:p.G396S

Associated Papers

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Clinical and genetic risk factors for progressive fibrosis in metabolic dysfunction-associated steatotic liver disease.

Kaplan DE et al.

Hepatology Communications, 2024

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.

Castano-Jaramillo LM et al.

Journal of Genetics, 2023

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Nastase A et al.

Scientific Reports, 2021

34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_4_WGS_cell_

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.

Morgan NV et al.

Brain Communications, 2021

33634263 (PubMed )
Supplement: fcab002_supplementary_data.zip › Supplementary_Table_4.pdf

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM7_ESM.xlsx › Cholecystitis_Mutations

Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry.

Minarik L et al.

Folia Biologica, 2020

Genetic Susceptibility to Leprosy-From Classic Immune-Related Candidate Genes to Hypothesis-Free, Whole Genome Approaches.

Cambri G et al.

Frontiers in Immunology, 2018

Influence of Genetic Polymorphism Towards Pulmonary Tuberculosis Susceptibility.

Harishankar M et al.

Frontiers in Medicine, 2018

The variations of IL-23R are associated with susceptibility and severe clinical forms of pulmonary tuberculosis in Chinese Uygurs.

Jiang D et al.

Bmc Infectious Diseases, 2015

The novel human MRC1 gene polymorphisms are associated with susceptibility to pulmonary tuberculosis in Chinese Uygur and Kazak populations.

Zhang X et al.

Molecular Biology Reports, 2013

Innate immune gene polymorphisms in tuberculosis.

Azad AK et al.

Infection and Immunity, 2012

Genetic variants of the MRC1 gene and the IFNG gene are associated with leprosy in Han Chinese from Southwest China.

Wang D et al.

Human Genetics, 2012

Polymorphic allele of human MRC1 confer protection against tuberculosis in a Chinese population.

Zhang X et al.

International Journal of Biological Sciences, 2012

C-type lectin receptors and RIG-I-like receptors: new points on the oncogenomics map.

Kutikhin AG et al.

Cancer Management and Research, 2012

Exploring the potential relevance of human-specific genes to complex disease.

Cooper DN et al.

Human Genomics, 2011

Leprosy and the human genome.

Misch EA et al.

Microbiology and Molecular Biology Reviews : Mmbr, 2010

Genetic and functional analysis of common MRC1 exon 7 polymorphisms in leprosy susceptibility.

Alter A et al.

Human Genetics, 2010

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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."