Varaico: Literature-Extracted Genetic Variants

Gene:STK4
Variant:p.R117*
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STK4

NM_006282.5:p.R117*

Associated Papers

MST1 bridges LYN and SHP-1 to suppress FcεRI-mediated mast cell activation and allergic responses.

Li M et al.

Cellular & Molecular Immunology, 2026

General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.

Tedman A et al.

Biorxiv : the Preprint Server for Biology, 2025

40964320 (PubMed )
Supplement: media-1.pdf

Somatic Mutational Landscape in Mexican Patients: CDH1 Mutations and chr20q13.33 Amplifications Are Associated with Diffuse-Type Gastric Adenocarcinoma.

Cerrato-Izaguirre D et al.

International Journal of Molecular Sciences, 2022

36232418 (PubMed )
Supplement: ijms-23-11116-s001.zip › ijms-1877046-supplementary.pdf

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis.

Sharafian S et al.

Journal of Clinical Immunology, 2019

Noncanonical Hippo Signalling in the Regulation of Leukocyte Function.

Kurz ARM et al.

Trends in Immunology, 2018

EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency.

Schipp C et al.

Frontiers in Immunology, 2018

F-actin remodeling defects as revealed in primary immunodeficiency disorders.

Janssen WJ et al.

Clinical Immunology (orlando, Fla.), 2016

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.

Dang TS et al.

Journal of Clinical Immunology, 2016

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.

Nehme NT et al.

Blood, 2012

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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."