Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A2
Variant:p.S545C
Back to variants list

SLC24A2

NM_020344.4:p.S545C

Associated Papers

Structural and functional mapping of ion access pathways in the human K+-dependent Na+/Ca2+ exchanger NCKX2 using cysteine scanning mutagenesis, thiol-modifying reagents, and homology modelling.

Szerencsei RT et al.

Channels (austin, Tex.), 2025

Characterization of the Cation Binding Sites in the NCKX2 Na+/Ca2+-K+ Exchanger.

Zhekova H et al.

Biochemistry, 2016

A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.

Jalloul AH et al.

The Journal of Biological Chemistry, 2016

Residues contributing to the Ca2+ and K+ binding pocket of the NCKX2 Na+/Ca2+-K+ exchanger.

Kang KJ et al.

The Journal of Biological Chemistry, 2005

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."