Varaico: Literature-Extracted Genetic Variants

Gene:LPIN2
Variant:p.R736H
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LPIN2

NM_001375808.2:p.R736H

Associated Papers

Structures of a lipin/Pah phosphatidic acid phosphatase in distinct catalytic states reveal a signature motif for substrate recognition.

Vitkovska T et al.

The Journal of Biological Chemistry, 2025

Structures of a lipin/Pah phosphatidic acid phosphatase in distinct catalytic states reveal a signature motif for substrate recognition.

Vitkovska T et al.

Biorxiv : the Preprint Server for Biology, 2025

Lipin phosphatidic acid phosphatases: Structure, function, regulation, and disease association.

Welcome FS et al.

Advances in Biological Regulation, 2025

Clinical and genetic analysis of Majeed syndrome caused by LPIN2 complex heterozygous mutation and literature review.

Wang S et al.

Frontiers in Pediatrics, 2025

LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature.

Badiger VA et al.

Clinical Dysmorphology, 2024

Majeed Syndrome: Five Cases With Novel Mutations From Unrelated Families in India With a Review of Literature.

Chavan PP et al.

The Journal of Rheumatology, 2021

Novel Majeed Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis.

Bhuyan F et al.

Arthritis & Rheumatology (hoboken, N.j.), 2021

Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.

Ferguson PJ et al.

Biomolecules, 2021

Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.

Roy NBA et al.

Rheumatology (oxford, England), 2020

Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.

Liu J et al.

Bmc Medical Genetics, 2019

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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."