Varaico: Literature-Extracted Genetic Variants

Gene:CLIC2
Variant:p.P160A
Back to variants list

CLIC2

NM_001289.6:p.P160A

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.

Witham S et al.

Proteins, 2011

A rational free energy-based approach to understanding and targeting disease-causing missense mutations.

Zhang Z et al.

Journal of the American Medical Informatics Association : Jamia, 0

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."