Varaico: Literature-Extracted Genetic Variants

Gene:SAMHD1
Variant:p.Y155C
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SAMHD1

NM_015474.4:p.Y155C

Associated Papers

SAMHD1 in cancer: curse or cure?

Schott K et al.

Journal of Molecular Medicine (berlin, Germany), 2022

34480199 (PubMed )
Supplement: 109_2021_2131_MOESM1_ESM.xlsx › Tabelle1

Aicardi-Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test.

Senju C et al.

Frontiers in Pediatrics, 2022

Structural and functional characterization explains loss of dNTPase activity of the cancer-specific R366C/H mutant SAMHD1 proteins.

Bowen NE et al.

The Journal of Biological Chemistry, 2021

Dual roles of SAMHD1 in tumor development and chemoresistance to anticancer drugs.

Chen Z et al.

Oncology Letters, 2021

Genomic mutation profile in progressive chronic lymphocytic leukemia patients prior to first-line chemoimmunotherapy with FCR and rituximab maintenance (REM).

González-Rincón J et al.

Plos One, 2021

34506616 (PubMed )
Supplement: pone.0257353.s001.xlsx › Table_S3._SNVs

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

Clifford R et al.

Blood, 2014

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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."