Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.V81I
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SDS

NM_006843.3:p.V81I

Associated Papers

Comprehensive mutational analysis of the checkpoint signaling function of Rpa1/Ssb1 in fission yeast.

Xu YJ et al.

Plos Genetics, 2023

Genetic Analysis of Human Chymotrypsin-Like Elastases 3A and 3B (CELA3A and CELA3B) to Assess the Role of Complex Formation between Proelastases and Procarboxypeptidases in Chronic Pancreatitis.

Párniczky A et al.

International Journal of Molecular Sciences, 2016

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

McCorvie TJ et al.

Human Molecular Genetics, 2016

27005423 (PubMed )
Supplement: supp_ddw091_SupplementaryInformation.pdf

The Role of Dileucine in the Expression and Function of Human Organic Anion Transporter 1 (hOAT1).

Zhang Q et al.

International Journal of Biochemistry and Molecular Biology, 2011

Structure of Vps26B and mapping of its interaction with the retromer protein complex.

Collins BM et al.

Traffic (copenhagen, Denmark), 2008

Role of transmembrane segment 5 of the plant vacuolar H+-pyrophosphatase.

Van RC et al.

Biochimica Et Biophysica Acta, 2005

The role of glycine residues in the function of human organic anion transporter 4.

Zhou F et al.

Molecular Pharmacology, 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."