Varaico: Literature-Extracted Genetic Variants

Gene:PMS2
Variant:p.E41A
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PMS2

NM_000535.7:p.E41A

Associated Papers

WRN helicase and mismatch repair complexes independently and synergistically disrupt cruciform DNA structures.

Mengoli V et al.

The Embo Journal, 2023

Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

Drost M et al.

Human Mutation, 2013

Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

Borràs E et al.

Journal of Medical Genetics, 2013

Modulation of microRNA processing by mismatch repair protein MutLα.

Mao G et al.

Cell Research, 2012

Conservation of functional asymmetry in the mammalian MutLα ATPase.

Johnson JR et al.

Dna Repair, 2010

Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repair.

Tomer G et al.

The Journal of Biological Chemistry, 2002

Mutations within the hMLH1 and hPMS2 subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha.

Räschle M et al.

The Journal of Biological Chemistry, 2002

Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase.

Guarné A et al.

The Embo Journal, 2001

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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."