Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.W65*
Back to variants list

AGPAT2

NM_006412.4:p.W65*

Associated Papers

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.

Ceccarini G et al.

Frontiers in Endocrinology, 2020

A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.

Broekema MF et al.

Frontiers in Physiology, 2018

Towards a mechanistic understanding of lipodystrophy and seipin functions.

Wee K et al.

Bioscience Reports, 2014

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.

Hegele RA et al.

Journal of Lipid Research, 2007

Prevalence of mutations in AGPAT2 among human lipodystrophies.

Magré J et al.

Diabetes, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."