Varaico: Literature-Extracted Genetic Variants

Gene:DAXX
Variant:p.L130R
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DAXX

NM_001141969.2:p.L130R

Associated Papers

Cancer-Associated DAXX Mutations Reveal a Critical Role for ATRX Localization in ALT Suppression.

Clatterbuck Soper SF et al.

Molecular and Cellular Biology, 2025

Proximal proteomics reveals a landscape of human nuclear condensates.

Li R et al.

Nature Cell Biology, 2025

Cancer-associated DAXX mutations reveal a critical role for ATRX localization in ALT suppression.

Clatterbuck Soper SF et al.

Biorxiv : the Preprint Server for Biology, 2024

DAXX-ATRX regulation of p53 chromatin binding and DNA damage response.

Gulve N et al.

Nature Communications, 2022

ATRX loss induces telomere dysfunction and necessitates induction of alternative lengthening of telomeres during human cell immortalization.

Li F et al.

The Embo Journal, 2019

Disease mutant analysis identifies a new function of DAXX in telomerase regulation and telomere maintenance.

Tang M et al.

Journal of Cell Science, 2015

DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.

Jiao Y et al.

Science (new York, N.y.), 2011

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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."