Varaico: Literature-Extracted Genetic Variants

Gene:RIN3
Variant:p.R279C
Back to variants list

RIN3

NM_024832.5:p.R279C

Associated Papers

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

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

Shen R et al.

Frontiers in Cell and Developmental Biology, 2022

Update on the pathogenesis and genetics of Paget's disease of bone.

Gennari L et al.

Frontiers in Cell and Developmental Biology, 2022

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_004_N

Targeted Inactivation of Rin3 Increases Trabecular Bone Mass by Reducing Bone Resorption and Favouring Bone Formation.

Vallet M et al.

Calcified Tissue International, 2021

Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset.

De Ridder R et al.

Calcified Tissue International, 2019

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.

Grassmann F et al.

Genome Medicine, 2017

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

Alonso N et al.

Clinical Reviews in Bone and Mineral Metabolism, 2017

Biology and Treatment of Paget's Disease of Bone.

Vallet M et al.

Journal of Cellular Biochemistry, 2016

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.

Soler Artigas M et al.

Nature Communications, 2015

Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Creixell P et al.

Cell, 2015

26388441 (PubMed )
Supplement: mmc10.zip › DataFileS2_ReKINectOutputES2.xlsx › ES2.standardfilteringd10_Mut_Re

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

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results

Genetics of Paget's disease of bone.

Albagha OM

Bonekey Reports, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."