Varaico: Literature-Extracted Genetic Variants

Gene:SH2D1A
Variant:p.R32T
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SH2D1A

NM_002351.5:p.R32T

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

CoDIAC: A comprehensive approach for interaction analysis reveals novel insights into SH2 domain function and regulation.

Kandoor A et al.

Biorxiv : the Preprint Server for Biology, 2025

39091881 (PubMed )
Supplement: media-5.xlsx › B.Mutation_classification

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

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.

Gray PE et al.

Journal of Clinical Immunology, 2015

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

Reduced-intensity conditioning hematopoietic cell transplantation is an effective treatment for patients with SLAM-associated protein deficiency/X-linked lymphoproliferative disease type 1.

Marsh RA et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2014

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

Molecular and cellular pathogenesis of X-linked lymphoproliferative disease.

Nichols KE et al.

Immunological Reviews, 2005

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

Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients.

Morra M et al.

The Journal of Biological Chemistry, 2001

Abnormal T cell receptor signal transduction of CD4 Th cells in X-linked lymphoproliferative syndrome.

Nakamura H et al.

Journal of Immunology (baltimore, Md. : 1950), 2001

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

Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition.

Poy F et al.

Molecular Cell, 1999

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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."