Varaico: Literature-Extracted Genetic Variants

Gene:EFHD2
Variant:p.D141A
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EFHD2

NM_024329.6:p.D141A

Associated Papers

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

EFhd2 Affects Tau Liquid-Liquid Phase Separation.

Vega IE et al.

Frontiers in Neuroscience, 2019

Physiological and pathophysiological functions of Swiprosin-1/EFhd2 in the nervous system.

Mielenz D et al.

The Biochemical Journal, 2016

Functional and structural analysis of the conserved EFhd2 protein.

Ferrer-Acosta Y et al.

Protein and Peptide Letters, 2013

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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."