Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.R138P
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WAS

NM_000377.3:p.R138P

Associated Papers

Accelerated death of megakaryocytes from Wiskott-Aldrich syndrome patients.

Obydennyi SI et al.

British Journal of Haematology, 2023

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration.

Worth AJ et al.

Blood, 2013

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

Rajmohan R et al.

Fems Yeast Research, 2009

Multiple WASP-interacting protein recognition motifs are required for a functional interaction with N-WASP.

Peterson FC et al.

The Journal of Biological Chemistry, 2007

WIP regulates the stability and localization of WASP to podosomes in migrating dendritic cells.

Chou HC et al.

Current Biology : Cb, 2006

Two novel mutations of Wiskott-Aldrich syndrome: the molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling.

Kim MK et al.

Biochimica Et Biophysica Acta, 2004

X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP).

Luthi JN et al.

Experimental Hematology, 2003

A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4.

Doğu F et al.

The Turkish Journal of Pediatrics, 0

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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."