Varaico: Literature-Extracted Genetic Variants

Gene:WAS
Variant:p.F84L
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WAS

NM_000377.3:p.F84L

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Lyn

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Lyn

The sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing.

Salemi N et al.

Immunogenetics, 2024

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

X-linked thrombocytopenia causing mutations in WASP (L46P and A47D) impair T cell chemotaxis.

Jain N et al.

Journal of Biomedical Science, 2014

25200405 (PubMed )
Supplement: 12929_2014_91_MOESM1_ESM.pdf

Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations.

Lee WI et al.

Journal of Clinical Immunology, 2010

Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.

Andreu N et al.

International Journal of Molecular Medicine, 2007

Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Qasim W et al.

British Journal of Haematology, 2001

Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.

Ho LL et al.

British Journal of Haematology, 2001

Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain.

Rong SB et al.

Journal of Molecular Medicine (berlin, Germany), 2000

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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."