Varaico: Literature-Extracted Genetic Variants

Gene:ERVFRD-1
Variant:p.P59Q
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ERVFRD-1

NM_207582.3:p.P59Q

Associated Papers

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.

Zeitz C et al.

Human Mutation, 2007

Novel PtdIns(3)P-binding protein Etf1 functions as an effector of the Vps34 PtdIns 3-kinase in autophagy.

Wurmser AE et al.

The Journal of Cell Biology, 2002

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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."