Varaico: Literature-Extracted Genetic Variants

Gene:SAMHD1
Variant:p.H123P
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SAMHD1

NM_015474.4:p.H123P

Associated Papers

A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.

White TE et al.

Human Mutation, 2017

Modulation of LINE-1 Retrotransposition by a Human SAMHD1 Polymorphism.

White TE et al.

Virology Reports, 2016

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ et al.

American Journal of Medical Genetics. Part A, 2015

25604658 (PubMed )
Supplement: supplement_1.docx

Effects of human SAMHD1 polymorphisms on HIV-1 susceptibility.

White TE et al.

Virology, 2014

Mechanism of allosteric activation of SAMHD1 by dGTP.

Ji X et al.

Nature Structural & Molecular Biology, 2013

SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.

Goncalves A et al.

Human Mutation, 2012

Aicardi-Goutieres syndrome: from patients to genes and beyond.

Chahwan C et al.

Clinical Genetics, 2012

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Rice GI et al.

Nature Genetics, 2009

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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."