Varaico: Literature-Extracted Genetic Variants

Gene:WIPF1
Variant:p.K45I
Back to variants list

WIPF1

NM_001375834.1:p.K45I

Associated Papers

A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding.

Massaad MJ et al.

The Journal of Allergy and Clinical Immunology, 2011

The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function.

Blundell MP et al.

Disease Markers, 2010

Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.

Rajmohan R et al.

Fems Yeast 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."