Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.K30N
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SDS

NM_006843.3:p.K30N

Associated Papers

Functional characterization of 84 PALB2 variants of uncertain significance.

Wiltshire T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Few Conserved Amino Acids in the Small Multidrug Resistance Transporter EmrE Influence Drug Polyselectivity.

Saleh M et al.

Antimicrobial Agents and Chemotherapy, 2018

Cysteine-scanning mutagenesis supports the importance of Clostridium perfringens enterotoxin amino acids 80 to 106 for membrane insertion and pore formation.

Chen J et al.

Infection and Immunity, 2012

Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.

Park SY et al.

Biochemical and Biophysical Research Communications, 2010

Identification of a glycine motif required for packing in EmrE, a multidrug transporter from Escherichia coli.

Elbaz Y et al.

The Journal of Biological Chemistry, 2008

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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."