Varaico: Literature-Extracted Genetic Variants

Gene:RIN3
Variant:p.P386S
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RIN3

NM_024832.5:p.P386S

Associated Papers

Ras and Rab Interactor 3: From Cellular Mechanisms to Human Diseases.

Shen R et al.

Frontiers in Cell and Developmental Biology, 2022

Clinical and Genetic Advances in Paget's Disease of Bone: a Review.

Alonso N et al.

Clinical Reviews in Bone and Mineral Metabolism, 2017

Differential Recognition Preferences of the Three Src Homology 3 (SH3) Domains from the Adaptor CD2-associated Protein (CD2AP) and Direct Association with Ras and Rab Interactor 3 (RIN3).

Rouka E et al.

The Journal of Biological Chemistry, 2015

Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.

Vallet M et al.

Human Molecular Genetics, 2015

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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."