Varaico: Literature-Extracted Genetic Variants

Gene:RCVRN
Variant:p.E85Q
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RCVRN

NM_002903.3:p.E85Q

Associated Papers

Perturbed Ca2+-dependent signaling of DYT2 hippocalcin mutant as mechanism of autosomal recessive dystonia.

Osypenko DS et al.

Neurobiology of Disease, 2019

A highly conserved cysteine of neuronal calcium-sensing proteins controls cooperative binding of Ca2+ to recoverin.

Ranaghan MJ et al.

The Journal of Biological Chemistry, 2013

Effects of metal-binding loop mutations on ligand binding to calcium- and integrin-binding protein 1. Evolution of the EF-hand?

Yamniuk AP et al.

Biochemistry, 2008

Tuning of a neuronal calcium sensor.

Weiergräber OH et al.

The Journal of Biological Chemistry, 2006

Functional restoration of the Ca2+-myristoyl switch in a recoverin mutant.

Senin II et al.

Journal of Molecular Biology, 2003

Impact of N-terminal myristoylation on the Ca2+-dependent conformational transition in recoverin.

Weiergräber OH et al.

The Journal of Biological Chemistry, 2003

Structure and calcium-binding studies of a recoverin mutant (E85Q) in an allosteric intermediate state.

Ames JB et al.

Biochemistry, 2002

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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."