Varaico: Literature-Extracted Genetic Variants

Gene:SAMHD1
Variant:p.Q149*
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SAMHD1

NM_015474.4:p.Q149*

Associated Papers

SAMHD1 Limits the Efficacy of Forodesine in Leukemia by Protecting Cells against the Cytotoxicity of dGTP.

Davenne T et al.

Cell Reports, 2020

SAMHD1-deficient fibroblasts from Aicardi-Goutières Syndrome patients can escape senescence and accumulate mutations.

Franzolin E et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

An Integrative Framework Reveals Signaling-to-Transcription Events in Toll-like Receptor Signaling.

Mertins P et al.

Cell Reports, 2017

The eukaryotic elongation factor eEF1A1 interacts with SAMHD1.

Morrissey C et al.

The Biochemical Journal, 2015

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

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."