Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.G27S
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SH2D1A

NM_002351.5:p.G27S

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_-_Fyn

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_-_Fyn

Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1.

Hoshino A et al.

The Journal of Allergy and Clinical Immunology, 2019

The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.

Overwater E et al.

European Journal of Pediatrics, 2014

SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis.

Yang X et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2012

A unique clinical presentation of X-linked lymphoproliferative syndrome with a novel mutation in SH2D1A and review of the literature.

Eckrich MJ et al.

Journal of Pediatric Hematology/oncology, 2011

Genome wide analysis of pathogenic SH2 domain mutations.

Lappalainen I et al.

Proteins, 2008

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members.

Tabata Y et al.

Blood, 2005

Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.

Nichols KE et al.

Immunological Reviews, 2005

Persistent hypogammaglobulinemia following mononucleosis in boys is highly suggestive of X-linked lymphoproliferative disease--report of three cases.

Hügle B et al.

Journal of Clinical Immunology, 2004

[Lymphoproliferative disorders caused by hereditary genetic defects].

Kanegane H et al.

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2003

The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease.

Engel P et al.

Nature Reviews. Immunology, 2003

A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses.

Sumegi J et al.

Leukemia & Lymphoma, 2002

X-linked lymphoproliferative disease is caused by deficiency of a novel SH2 domain-containing signal transduction adaptor protein.

Schuster V et al.

Immunological Reviews, 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."