Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.M1184V
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NLRP1

NM_033004.4:p.M1184V

Associated Papers

Impact of NLRP1 Met1154Val and IL1B variants on gestational malaria: an unexplored role of NLRP1 in inflammasome activation by Plasmodium spp.

Leal VN et al.

The Journal of Pathology, 2025

NLRP inflammasomes in health and disease.

Xu Z et al.

Molecular Biomedicine, 2024

NLRP1- A CINDERELLA STORY: a perspective of recent advances in NLRP1 and the questions they raise.

Barry K et al.

Communications Biology, 2023

A common variant close to the "tripwire" linker region of NLRP1 contributes to severe COVID-19.

Leal VNC et al.

Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.], 2023

Inflammasome sensor NLRP1 disease variant M1184V promotes autoproteolysis and DPP9 complex formation by stabilizing the FIIND domain.

Moecking J et al.

The Journal of Biological Chemistry, 2022

NLRP1 Inflammasome Activation in Keratinocytes: Increasing Evidence of Important Roles in Inflammatory Skin Diseases and Immunity.

Fenini G et al.

The Journal of Investigative Dermatology, 2022

The CARD8 T60 variant associates with NLRP1 and negatively regulates its activation.

Xu Z et al.

Frontiers in Immunology, 2022

A Possible Association Between a Nucleotide-Binding Domain LRR-Containing Protein Family PYD-Containing Protein 1 Mutation and an Autoinflammatory Disease Involving Liver Cirrhosis.

Yasudo H et al.

Hepatology (baltimore, Md.), 2021

NLRP1 variant M1184V decreases inflammasome activation in the context of DPP9 inhibition and asthma severity.

Moecking J et al.

The Journal of Allergy and Clinical Immunology, 2021

NGS study of glucocorticoid response genes in inflammatory bowel disease patients.

Skrzypczak-Zielinska M et al.

Archives of Medical Science : Ams, 2021

Inflammasome genetics and complex diseases: a comprehensive review.

Fernandes FP et al.

European Journal of Human Genetics : Ejhg, 2020

Autoinflammatory disease with corneal and mucosal dyskeratosis caused by a novel NLRP1 variant.

Herlin T et al.

Rheumatology (oxford, England), 2020

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

The NLRP1 Inflammasome in Human Skin and Beyond.

Fenini G et al.

International Journal of Molecular Sciences, 2020

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

Gain-of-function SNPs in NLRP3 and IL1B genes confer protection against obesity and T2D: undiscovered role of inflammasome genetics in metabolic homeostasis?

de Moraes Rodrigues J et al.

Endocrine, 2018

Gain-of-function variants in NLRP1 protect against the development of diabetic kidney disease: NLRP1 inflammasome role in metabolic stress sensing?

Soares JLS et al.

Clinical Immunology (orlando, Fla.), 2018

Associations of interactions between NLRP3 SNPs and HLA mismatch with acute and extensive chronic graft-versus-host diseases.

Takahashi H et al.

Scientific Reports, 2017

29026154 (PubMed )
Supplement: 41598_2017_13506_MOESM1_ESM.pdf

Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

Rawal RM et al.

3 Biotech, 2015

28324520 (PubMed )
Supplement: 13205_2014_267_MOESM1_ESM.xlsx › WH

Functions of NOD-Like Receptors in Human Diseases.

Zhong Y et al.

Frontiers in Immunology, 2013

NLRP1 haplotypes associated with leprosy in Brazilian patients.

Pontillo A et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2013

NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome.

Levandowski CB et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Autolytic proteolysis within the function to find domain (FIIND) is required for NLRP1 inflammasome activity.

Finger JN et al.

The Journal of Biological Chemistry, 2012

NALP1/NLRP1 genetic variants are associated with Alzheimer disease.

Pontillo A et al.

Alzheimer Disease and Associated Disorders, 0

Genetics of Inflammasomes.

da Silva WC et al.

Experientia Supplementum (2012), 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."