Varaico: Literature-Extracted Genetic Variants

Gene:HPS5
Variant:p.Q473*
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HPS5

NM_181507.2:p.Q473*

Associated Papers

Sequence Context-Agnostic TadA-Derived Cytosine Base Editors for Genome-Wide Editing in Zebrafish.

Zheng S et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.

Green DJ et al.

Nature Communications, 2024

39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Michaud V et al.

Nature Communications, 2022

35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1

Hermansky-Pudlak syndrome: Mutation update.

Huizing M et al.

Human Mutation, 2020

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Michaud V et al.

Pigment Cell & Melanoma Research, 2017

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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."