Varaico: Literature-Extracted Genetic Variants

Gene:ATRX
Variant:p.C240G
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ATRX

NM_000489.6:p.C240G

Associated Papers

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

ATRX Promotes DNA Repair Synthesis and Sister Chromatid Exchange during Homologous Recombination.

Juhász S et al.

Molecular Cell, 2018

Combinatorial readout of histone H3 modifications specifies localization of ATRX to heterochromatin.

Eustermann S et al.

Nature Structural & Molecular Biology, 2011

Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.

Steensma DP et al.

Blood, 2004

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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."