Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.V415I
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LMNA

NM_170707.4:p.V415I

Associated Papers

A-type lamins anchor emerin at the inner nuclear membrane via two independent binding sites.

Odell J et al.

The Journal of Biological Chemistry, 2026

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

Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.

Pessente GD et al.

Frontiers in Cardiovascular Medicine, 2022

35449878 (PubMed )
Supplement: Data_Sheet_1.PDF

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Systematic identification of pathological lamin A interactors.

Dittmer TA et al.

Molecular Biology of the Cell, 2014

Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.

Yang L et al.

Plos One, 2013

[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].

Zhang RX et al.

Yi Chuan = Hereditas, 2010

Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation.

Brauch KM et al.

The American Journal of Cardiology, 2009

Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Captur G et al.

Open Heart, 0

30402260 (PubMed )
Supplement: openhrt-2018-000915supp001.docx
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