Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.H8D
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SH2D1A

NM_002351.5:p.H8D

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

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

X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis.

Kanegane H et al.

American Journal of Hematology, 2005

[Lymphoproliferative disorders caused by hereditary genetic defects].

Kanegane H et al.

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

Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection.

Shinozaki K et al.

International Immunology, 2002

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

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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."