Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.T878M
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NLRP1

NM_033004.4:p.T878M

Associated Papers

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

Barry K et al.

Communications Biology, 2023

38104185 (PubMed )
Supplement: 42003_2023_5684_MOESM1_ESM.pdf

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

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

Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Somatic Mutations in CDH1 and Other Clinically Actionable Mutations Imply Early Use of Targeted Agents.

Wang LC et al.

Current Oncology (toronto, Ont.), 2021

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

Skrzypczak-Zielinska M et al.

Archives of Medical Science : Ams, 2021

The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Muscat AM et al.

Oncotarget, 2018

29487696 (PubMed )
Supplement: oncotarget-09-7844-s003.xlsx › Supplementary_Table_S2

Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis.

Maver A et al.

Scientific Reports, 2017

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs

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

NALP1/NLRP1 genetic variants are associated with Alzheimer disease.

Pontillo A et al.

Alzheimer Disease and Associated Disorders, 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."