Varaico: Literature-Extracted Genetic Variants

Gene:LMNB1
Variant:p.A501V
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LMNB1

NM_005573.4:p.A501V

Associated Papers

Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.

Fava VM et al.

Scientific Reports, 2025

41430073 (PubMed )
Supplement: 41598_2025_30734_MOESM2_ESM.xlsx › Variants

A common variant that alters SUN1 degradation associates with hepatic steatosis and metabolic traits in multiple cohorts.

Upadhyay KK et al.

Journal of Hepatology, 2023

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.

Storey EC et al.

Cells, 2022

36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › Lamins

Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.

Nazarenko MS et al.

International Journal of Molecular Sciences, 2022

36012502 (PubMed )
Supplement: ijms-23-09234-s001.zip › Supplementary_Files › Supplementary_Table_S1.xlsx › Variants__A_and_B_category

B-type lamins in health and disease.

Hutchison CJ

Seminars in Cell & Developmental Biology, 2014

Is LMNB1 a susceptibility gene for neural tube defects in humans?

Robinson A et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2013

Single-nucleotide polymorphisms of the nuclear lamina proteome.

Hegele RA et al.

Journal of Human Genetics, 2001

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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."