Varaico: Literature-Extracted Genetic Variants

Gene:LYZ
Variant:p.W82R
Back to variants list

LYZ

NM_000239.3:p.W82R

Associated Papers

Expanding the clinical spectrum of lysozyme-derived amyloidosis.

Robert M et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2025

First Report of Lysozyme Amyloidosis with p.F21L/T88N Amino Acid Substitutions in a Russian Family.

Suvorina MY et al.

International Journal of Molecular Sciences, 2023

Lysozyme amyloidosis-a report on a large German cohort and the characterisation of a novel amyloidogenic lysozyme gene variant.

Anker S et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022

Determination of deleterious single-nucleotide polymorphisms of human LYZ C gene: an in silico study.

Venkata Subbiah H et al.

Journal, Genetic Engineering & Biotechnology, 2022

Lysozyme amyloid: evidence for the W64R variant by proteomics in the absence of the wild type protein.

Moura A et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2020

Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review.

Li Z et al.

Bmc Nephrology, 2019

Hereditary lysozyme amyloidosis with sicca syndrome, digestive, arterial, and tracheobronchial involvement: case-based review.

Benyamine A et al.

Clinical Rheumatology, 2017

Complex p.T88N/W130R mutation in the lysozyme gene leading to hereditary lysozyme amyloidosis with biopsy-proven cardiac involvement.

Sperry BW et al.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2017

Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype.

Nasr SH et al.

Journal of the American Society of Nephrology : Jasn, 2017

Lysozyme Mutants Accumulate in Cells while Associated at their N-terminal Alpha-domain with the Endoplasmic Reticulum Chaperone GRP78/BiP.

Kamada Y et al.

International Journal of Biological Sciences, 2016

A new family with hereditary lysozyme amyloidosis with gastritis and inflammatory bowel disease as prevailing symptoms.

Jean E et al.

Bmc Gastroenterology, 2014

Control of translational repression by protein-protein interactions.

Peabody DS et al.

Nucleic Acids Research, 1992

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."