Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.G175S
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PMEL

NM_001384361.1:p.G175S

Associated Papers

Cryo-EM of wild-type and mutant PMEL amyloid cores reveals structural mechanism of pigment dispersion syndrome.

Yanagisawa H et al.

Nature Communications, 2025

Disrupting the Repeat Domain of Premelanosome Protein (PMEL) Produces Dysamyloidosis and Dystrophic Ocular Pigment Reflective of Pigmentary Glaucoma.

Hodges ED et al.

International Journal of Molecular Sciences, 2023

Structural Organization of the Retriever-CCC Endosomal Recycling Complex.

Boesch DJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.

Chrystal PW et al.

Molecules (basel, Switzerland), 2021

Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.

Lahola-Chomiak AA et al.

Human Molecular Genetics, 2019

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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."