Varaico: Literature-Extracted Genetic Variants

Gene:PNLIP
Variant:p.G233E
Back to variants list

PNLIP

NM_000936.4:p.G233E

Associated Papers

Characterization of a PNLIP variant identified in Amish pediatric patients with congenital pancreatic lipase deficiency.

Curry GE et al.

Journal of Lipid Research, 2025

Exploring the enigmatic association between PNLIP variants and risk of chronic pancreatitis in a large Chinese cohort.

Cassidy BM et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024

Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis.

Masson E et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023

Cigarette smoke toxin hydroquinone and misfolding pancreatic lipase variant cooperatively promote endoplasmic reticulum stress and cell death.

Kassay N et al.

Plos One, 2022

Missense PNLIP mutations impeding pancreatic lipase secretion cause protein misfolding and endoplasmic reticulum stress.

Toldi V et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2021

Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis.

Lasher D et al.

The American Journal of Gastroenterology, 2019

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."