Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.L29I
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SDS

NM_006843.3:p.L29I

Associated Papers

Multifaceted membrane interactions of human Atg3 promote LC3-phosphatidylethanolamine conjugation during autophagy.

Ye Y et al.

Nature Communications, 2023

37679347 (PubMed )
Supplement: 41467_2023_41243_MOESM1_ESM.pdf

Ornate, large, extremophilic (OLE) RNA forms a kink turn necessary for OapC protein recognition and RNA function.

Lyon SE et al.

The Journal of Biological Chemistry, 2022

36336078 (PubMed )
Supplement: mmc1.docx

Ssy5 is a signaling serine protease that exhibits atypical biogenesis and marked S1 specificity.

Martins A et al.

The Journal of Biological Chemistry, 2018

Disulfide Bond Formation and N-Glycosylation Modulate Protein-Protein Interactions in GPI-Transamidase (GPIT).

Yi L et al.

Scientific Reports, 2017

28374821 (PubMed )
Supplement: srep45912-s1.pdf

Revealing an outward-facing open conformational state in a CLC Cl(-)/H(+) exchange transporter.

Khantwal CM et al.

Elife, 2016

Mutation of cysteine residues alters the heme-binding pocket of indoleamine 2,3-dioxygenase-1.

Austin CJ et al.

Biochemical and Biophysical Research Communications, 2013

An iron-sulfur cluster loop motif in the Archaeoglobus fulgidus uracil-DNA glycosylase mediates efficient uracil recognition and removal.

Engstrom LM et al.

Biochemistry, 2012

Genetic variability of CYP2B6 in populations of African and Asian origin: allele frequencies, novel functional variants, and possible implications for anti-HIV therapy with efavirenz.

Klein K et al.

Pharmacogenetics and Genomics, 2005

Identification of the heme axial ligands in the cytochrome b562 of the Saccharomyces cerevisiae succinate dehydrogenase.

Oyedotun KS et al.

The Journal of Biological Chemistry, 2004

Active site determination of Gpi8p, a caspase-related enzyme required for glycosylphosphatidylinositol anchor addition to proteins.

Meyer U et al.

Biochemistry, 2000

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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."