Varaico: Literature-Extracted Genetic Variants

Gene:UBR1
Variant:p.H136R
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UBR1

NM_174916.3:p.H136R

Associated Papers

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

Bound Waters Mediate Binding of Diverse Substrates to a Ubiquitin Ligase.

Muñoz-Escobar J et al.

Structure (london, England : 1993), 2017

The UBR-box and its relationship to binuclear RING-like treble clef zinc fingers.

Kaur G et al.

Biology Direct, 2015

Mutations in the human UBR1 gene and the associated phenotypic spectrum.

Sukalo M et al.

Human Mutation, 2014

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.

Hwang CS et al.

Plos One, 2011

Structural basis of substrate recognition and specificity in the N-end rule pathway.

Matta-Camacho E et al.

Nature Structural & Molecular Biology, 2010

Genetic basis and pancreatic biology of Johanson-Blizzard syndrome.

Zenker M et al.

Endocrinology and Metabolism Clinics of North America, 2006

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Zenker M et al.

Nature Genetics, 2005

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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."