Varaico: Literature-Extracted Genetic Variants

Gene:SAMHD1
Variant:p.Q536_V537Splc
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SAMHD1

NM_015474.4:p.Q536_V537Splc

Associated Papers

SAMHD1 in cancer: curse or cure?

Schott K et al.

Journal of Molecular Medicine (berlin, Germany), 2022

Aicardi-Goutières syndrome-associated gene SAMHD1 preserves genome integrity by preventing R-loop formation at transcription-replication conflict regions.

Park K et al.

Plos Genetics, 2021

33857133 (PubMed )
Supplement: pgen.1009523.s009.docx

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

Mertins P et al.

Cell Reports, 2017

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

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.

Clifford R et al.

Blood, 2014

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."