Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC3
Variant:p.R194*
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DNAJC3

NM_006260.5:p.R194*

Associated Papers

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST3_Known_Somatic_Variants

Case Report: Homozygous DNAJC3 Mutation Causes Monogenic Diabetes Mellitus Associated With Pancreatic Atrophy.

Alwatban S et al.

Frontiers in Endocrinology, 2021

Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3.

Jennings MJ et al.

Frontiers in Cell and Developmental Biology, 2021

Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.

Ozon ZA et al.

Pediatric Diabetes, 2020

DNAJC3 mutation in Thai familial type 2 diabetes mellitus.

Kulanuwat S et al.

International Journal of Molecular Medicine, 2018

Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.

Bublitz SK et al.

Clinical Genetics, 2017

Integrated clinical, whole-genome, and transcriptome analysis of multisampled lethal metastatic prostate cancer.

Bova GS et al.

Cold Spring Harbor Molecular Case Studies, 2016

27148588 (PubMed )
Supplement: supp_mcs.a000752_SuppTable2.xls › Sheet_1

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.

Synofzik M et al.

American Journal of Human Genetics, 2014

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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."