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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCU

Variant:p.E264A

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MCU

NM_138357.3:p.E264A

hg38:chr10:72871510 A>C

Associated Papers

Mechanisms of ion selectivity and throughput in the mitochondrial calcium uniporter.

Delgado BD et al.

Science Advances, 2022

36525497 (PubMed )

The conserved aspartate ring of MCU mediates MICU1 binding and regulation in the mitochondrial calcium uniporter complex.

Phillips CB et al.

Elife, 2019

30638448 (PubMed )

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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."