Varaico: Literature-Extracted Genetic Variants

Gene:EHD1
Variant:p.R398W
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EHD1

NM_006795.4:p.R398W

Associated Papers

Tubular proteinuria due to hereditary endocytic receptor disorder of the proximal tubule: Dent disease and chronic benign proteinuria.

Sakakibara N et al.

Pediatric Nephrology (berlin, Germany), 2025

A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.

Meindl K et al.

Frontiers in Cell and Developmental Biology, 2023

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.

Issler N et al.

Journal of the American Society of Nephrology : Jasn, 2022

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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."