Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.V266A
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SDS

NM_006843.3:p.V266A

Associated Papers

De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.

Yoon JG et al.

American Journal of Human Genetics, 2024

39047730 (PubMed )
Supplement: mmc3.pdf

Structural basis for the E3 ligase activity enhancement of yeast Nse2 by SUMO-interacting motifs.

Varejão N et al.

Nature Communications, 2021

34853311 (PubMed )
Supplement: 41467_2021_27301_MOESM1_ESM.pdf

Studies on the molecular docking and amino Acid residues involving in recognition of substrate in proline iminopeptidase by site-directed mutagenesis.

Jing Z et al.

The Protein Journal, 2015

Involvement of FtsE ATPase and FtsX extracellular loops 1 and 2 in FtsEX-PcsB complex function in cell division of Streptococcus pneumoniae D39.

Sham LT et al.

Mbio, 2013

Genetic alterations of the NRP/B gene are associated with human brain tumors.

Liang XQ et al.

Oncogene, 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."