Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.A477T
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SLC45A2

NM_016180.5:p.A477T

Associated Papers

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Bibi N et al.

Frontiers in Genetics, 2020

32849781 (PubMed )
Supplement: Data_Sheet_2.docx

Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model.

Reinders A et al.

Molecular Medicine Reports, 2015

The genetic basis of white tigers.

Xu X et al.

Current Biology : Cb, 2013

Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes.

Inagaki K et al.

Pigment Cell Research, 2006

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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."