Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.R239Q
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GALE

NM_001008216.2:p.R239Q

Associated Papers

DNMT3A p.R882C driven proliferation and anti-apoptotic effects in pancreatic cancer cells.

Qu Z et al.

Scientific Reports, 2026

41652067 (PubMed )
Supplement: 41598_2026_38613_MOESM1_ESM.xlsx › P2-SNV

Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.

P S et al.

Journal of Cellular Biochemistry, 2018

Molecular structure of human galactokinase: implications for type II galactosemia.

Thoden JB et al.

The Journal of Biological Chemistry, 2005

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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."