Varaico: Literature-Extracted Genetic Variants

Gene:NHERF1
Variant:p.E68A
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NHERF1

NM_004252.5:p.E68A

Associated Papers

Loss-of-function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system.

Song GJ et al.

Glia, 2020

Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.

Wagner CA et al.

Pediatric Nephrology (berlin, Germany), 2019

Dynamic NHERF interaction with TRPC4/5 proteins is required for channel gating by diacylglycerol.

Storch U et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

A Novel NHERF1 Mutation in Human Breast Cancer and Effects on Malignant Progression.

Yang X et al.

Anticancer Research, 2017

modPDZpep: a web resource for structure based analysis of human PDZ-mediated interaction networks.

Sain N et al.

Biology Direct, 2016

27655048 (PubMed )
Supplement: 13062_2016_151_MOESM1_ESM.xls › Sheet4

Genetic diseases of renal phosphate handling.

Wagner CA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014

Ezrin-anchored protein kinase A coordinates phosphorylation-dependent disassembly of a NHERF1 ternary complex to regulate hormone-sensitive phosphate transport.

Wang B et al.

The Journal of Biological Chemistry, 2012

A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism.

Courbebaisse M et al.

Plos One, 2012

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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."