Varaico: Literature-Extracted Genetic Variants

Gene:EGLN3
Variant:p.Y112H
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EGLN3

NM_022073.4:p.Y112H

Associated Papers

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Gossage L et al.

Human Molecular Genetics, 2014

24969085 (PubMed )
Supplement: supp_ddu321_ddu321supp.docx

Genetic insights into the hypoxia-inducible factor (HIF) pathway.

Kiriakidis S et al.

Advances in Enzyme Regulation, 2007

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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."