Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.Y998*
Back to variants list

SLC12A1

NM_000338.3:p.Y998*

Associated Papers

Protein Quality Control of NKCC2 in Bartter Syndrome and Blood Pressure Regulation.

Laghmani K

Cells, 2024

Diacidic Motifs in the Carboxyl Terminus Are Required for ER Exit and Translocation to the Plasma Membrane of NKCC2.

Bakhos-Douaihy D et al.

International Journal of Molecular Sciences, 2022

Golgi Alpha1,2-Mannosidase IA Promotes Efficient Endoplasmic Reticulum-Associated Degradation of NKCC2.

Demaretz S et al.

Cells, 2021

New insights into the role of endoplasmic reticulum-associated degradation in Bartter Syndrome Type 1.

Shaukat I et al.

Human Mutation, 2021

Differential Effects of STCH and Stress-Inducible Hsp70 on the Stability and Maturation of NKCC2.

Bakhos-Douaihy D et al.

International Journal of Molecular Sciences, 2021

Genetic heterogeneity in patients with Bartter syndrome type 1.

Sun M et al.

Molecular Medicine Reports, 2017

Multiple evolutionarily conserved Di-leucine like motifs in the carboxyl terminus control the anterograde trafficking of NKCC2.

Zaarour N et al.

The Journal of Biological Chemistry, 2012

A highly conserved motif at the COOH terminus dictates endoplasmic reticulum exit and cell surface expression of NKCC2.

Zaarour N et al.

The Journal of Biological Chemistry, 2009

Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.

Starremans PG et al.

Journal of the American Society of Nephrology : Jasn, 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."