Varaico: Literature-Extracted Genetic Variants

Gene:SEC16A
Variant:p.R1274C
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SEC16A

NM_014866.2:p.R1274C

Associated Papers

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9.

Hu Y et al.

Animal Models and Experimental Medicine, 2025

SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress.

Wang MJ et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CLB-GA

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 794.308
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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."