Varaico: Literature-Extracted Genetic Variants

Gene:EHD1
Variant:p.K483E
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EHD1

NM_006795.4:p.K483E

Associated Papers

Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation.

Lu Q et al.

Nature Cell Biology, 2015

Eps15 homology domain 1-associated tubules contain phosphatidylinositol-4-phosphate and phosphatidylinositol-(4,5)-bisphosphate and are required for efficient recycling.

Jović M et al.

Molecular Biology of the Cell, 2009

EHD1 and Eps15 interact with phosphatidylinositols via their Eps15 homology domains.

Naslavsky N et al.

The Journal of Biological Chemistry, 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."