Varaico: Literature-Extracted Genetic Variants

Gene:PRH2
Variant:p.E26K
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PRH2

NM_001110213.1:p.E26K

Associated Papers

A naturally occurring E30Q mutation in the Gla domain of protein Z causes its impaired secretion and subsequent deficiency.

Souri M et al.

Blood, 2005

Selective modulation of protein C affinity for EPCR and phospholipids by Gla domain mutation.

Preston RJ et al.

The Febs Journal, 2005

Mutant membrane protein of the budding yeast spindle pole body is targeted to the endoplasmic reticulum degradation pathway.

McBratney S et al.

Genetics, 2002

Genetic analysis of protein C deficiency in nineteen Japanese families: five recurrent defects can explain half of the deficiencies.

Miyata T et al.

Thrombosis Research, 1998

Substrate properties of site-specific mutant ubiquitin protein (G76A) reveal unexpected mechanistic features of ubiquitin-activating enzyme (E1).

Pickart CM et al.

The Journal of Biological Chemistry, 1994

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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."