Varaico: Literature-Extracted Genetic Variants

Gene:RANBP2
Variant:p.T653I
Back to variants list

RANBP2

NM_006267.5:p.T653I

Associated Papers

Unraveling the Diversity of RANBP2: Protein Isoforms and Implications for Cellular Function and Human Disease.

Desgraupes S et al.

Journal of Molecular Biology, 2025

Clinical and genetic characteristics of RANBP2 mutations in children with acute necrotizing encephalopathy.

Fan C et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

RANBP2 evolution and human disease.

Desgraupes S et al.

Febs Letters, 2023

De novo RANBP2 variant in a fetal demise case with cerebral intraparenchymal hemorrhage.

Meroni A et al.

American Journal of Medical Genetics. Part A, 2023

Rapid and inexpensive bedside diagnosis of RAN binding protein 2-associated acute necrotizing encephalopathy.

Gouy B et al.

Frontiers in Neurology, 2023

Architecture of the cytoplasmic face of the nuclear pore.

Bley CJ et al.

Science (new York, N.y.), 2022

A novel variation in RANBP2 associated with infection-triggered familial acute necrotizing encephalopathy.

Hu Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

RanBP2/Nup358 enhances miRNA activity by sumoylating Argonautes.

Shen Q et al.

Plos Genetics, 2021

Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia.

Lee YJ et al.

Brain & Development, 2017

RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy.

Sondhi V et al.

Brain & Development, 2016

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

Sell K et al.

Brain & Development, 2016

H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 gene.

Anand G et al.

The Pediatric Infectious Disease Journal, 2015

The interplay of infection and genetics in acute necrotizing encephalopathy.

Neilson DE

Current Opinion in Pediatrics, 2010

Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.

Neilson DE et al.

American Journal of Human Genetics, 2009

Acute Necrotizing Encephalopathy: 2 Case Reports on RANBP2 Mutation.

Hartley M et al.

Child Neurology Open, 0

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."