Varaico: Literature-Extracted Genetic Variants

Gene:NLRP2
Variant:p.I354V
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NLRP2

NM_017852.5:p.I354V

Associated Papers

Loss of the Maternal Effect Gene NLRP2 Impairs Embryonic and Extra-Embryonic Development, Revealing a Novel Genetic Cause of Congenital Anomalies†.

Sharif M et al.

Biology of Reproduction, 2025

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.

Pignata L et al.

Clinical Epigenetics, 2022

35643636 (PubMed )
Supplement: 13148_2022_1292_MOESM4_ESM.pdf

NLRP2, an inhibitor of the NF-kappaB pathway, is transcriptionally activated by NF-kappaB and exhibits a nonfunctional allelic variant.

Fontalba A et al.

Journal of Immunology (baltimore, Md. : 1950), 2007

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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."