Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.V1241L
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NLRP1

NM_033004.4:p.V1241L

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

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

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

Maver A et al.

Scientific Reports, 2017

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
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