Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A5
Variant:p.R174K
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SLC24A5

NM_205850.3:p.R174K

Associated Papers

A Nonsynonymous Single-nucleotide Polymorphism in SLC24A5 Regulates Feather Pigment Deposition in Chinese Yellow Quail.

Zhang X et al.

The Journal of Poultry Science, 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

A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.

Jalloul AH et al.

The Journal of Biological Chemistry, 2016

Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana.

Bertolotti A et al.

Pigment Cell & Melanoma Research, 2016

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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."