Varaico: Literature-Extracted Genetic Variants

Gene:STX11
Variant:p.Q268*
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STX11

NM_003764.4:p.Q268*

Associated Papers

Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.

Bahadir A et al.

Journal of Pediatric Hematology/oncology, 2022

Inherited Genetic Susceptibility to Nonimmunosuppressed Epstein-Barr Virus-associated T/NK-cell Lymphoproliferative Diseases in Chinese Patients.

Guan YQ et al.

Current Medical Science, 2021

Familial hemophagocytic lymphohistiocytosis in a girl with a novel homozygous mutation of STX11: A case report.

Guo X et al.

Medicine, 2019

A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis.

Sultanova AK et al.

Annals of Laboratory Medicine, 2016

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

Müller ML et al.

Frontiers in Immunology, 2014

Analysis of familial hemophagocytic lymphohistiocytosis type 4 (FHL-4) mutant proteins reveals that S-acylation is required for the function of syntaxin 11 in natural killer cells.

Hellewell AL et al.

Plos One, 2014

STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America.

Marsh RA et al.

Pediatric Blood & Cancer, 2010

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.

Bryceson YT et al.

Blood, 2007

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.

Rudd E et al.

Journal of Medical Genetics, 2006

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.

zur Stadt U et al.

Human Molecular Genetics, 2005

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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."