Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E669A
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MLH1

NM_000249.4:p.E669A

Associated Papers

Human MutLα activates methylpurine DNA glycosylase to induce alkylation damage cytotoxicity.

Ashour ME et al.

Biorxiv : the Preprint Server for Biology, 2025

Disruption of protein-protein interaction hotspots in the C-terminal domain of MLH1 confers mismatch repair deficiency.

Fishwick KM et al.

Nar Cancer, 2025

FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease.

Goold R et al.

Cell Reports, 2021

FAN1-MLH1 interaction affects repair of DNA interstrand cross-links and slipped-CAG/CTG repeats.

Porro A et al.

Science Advances, 2021

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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."