Varaico: Literature-Extracted Genetic Variants

Gene:KCNMA1
Variant:p.C550S
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KCNMA1

NM_001161352.2:p.C550S

Associated Papers

Elucidation of the heme binding site of heme-regulated eukaryotic initiation factor 2alpha kinase and the role of the regulatory motif in heme sensing by spectroscopic and catalytic studies of mutant proteins.

Igarashi J et al.

The Journal of Biological Chemistry, 2008

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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."