Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.K100*
Back to variants list

SDS

NM_006843.3:p.K100*

Associated Papers

The ribosome synchronizes folding and assembly to promote oligomeric protein biogenesis.

Roeselová A et al.

Molecular Cell, 2026

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.

Hu C et al.

Frontiers in Pediatrics, 2021

E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer.

Simões-Correia J et al.

Plos One, 2012

Fibulin 5 forms a compact dimer in physiological solutions.

Jones RP et al.

The Journal of Biological Chemistry, 2009

E-cadherin mutations and cell motility: a genotype-phenotype correlation.

Mateus AR et al.

Experimental Cell Research, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."