Varaico: Literature-Extracted Genetic Variants

Gene:RIPK2
Variant:p.I259T
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RIPK2

NM_003821.6:p.I259T

Associated Papers

Common inherited loss-of-function mutations in the innate sensor NOD2 contribute to exceptional immune response to cancer immunotherapy.

Barnet MB et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Fava VM et al.

Plos Neglected Tropical Diseases, 2021

34879060 (PubMed )
Supplement: pntd.0010029.s004.xlsx › S2_Table

Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.

Kim YW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

33576571 (PubMed )
Supplement: ALZ-17-831-s002.xlsx › Table_S4

A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.

Jurynec MJ et al.

Human Molecular Genetics, 2018

Association between receptor interacting serine/threonine kinase 2 polymorphisms and gastric cancer susceptibility.

Ota M et al.

Oncology Letters, 2018

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility.

Takeuchi M et al.

Nature Genetics, 2017

Association of the RIP2 gene with childhood atopic asthma.

Nakashima K et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2006

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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."