Varaico: Literature-Extracted Genetic Variants

Gene:PTPRC
Variant:p.S46S
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PTPRC

NM_002838.5:p.S46S

Associated Papers

Receptor type protein tyrosine phosphatases (RPTPs) - roles in signal transduction and human disease.

Xu Y et al.

Journal of Cell Communication and Signaling, 2012

Consequences of increased CD45RA and RC isoforms for TCR signaling and peripheral T cell deficiency resulting from heterogeneous nuclear ribonucleoprotein L-like mutation.

Wu Z et al.

Journal of Immunology (baltimore, Md. : 1950), 2010

An investigation of the C77G and C772T variations within the human protein tyrosine phosphatase receptor type C gene for association with multiple sclerosis in an Australian population.

Szvetko AL et al.

Brain Research, 2009

PTPRC (CD45) variation and disease association studied using single nucleotide polymorphism tagging.

Hennig BJ et al.

Tissue Antigens, 2008

Immunogenetic factors determining the evolution of T-cell large granular lymphocyte leukaemia and associated cytopenias.

Nearman ZP et al.

British Journal of Haematology, 2007

Unusual case presentations associated with the CD45 C77G polymorphism.

Tchilian EZ et al.

Clinical and Experimental Immunology, 2006

Altered CD45 expression in C77G carriers influences immune function and outcome of hepatitis C infection.

Dawes R et al.

Journal of Medical Genetics, 2006

Geographical distribution and disease associations of the CD45 exon 6 138G variant.

Ward V et al.

Immunogenetics, 2006

Combinations of CD45 isoforms are crucial for immune function and disease.

Dawes R et al.

Journal of Immunology (baltimore, Md. : 1950), 2006

Altered CD45 expression and disease.

Tchilian EZ et al.

Trends in Immunology, 2006

[The clinical importance of the polymorphisms of CD45 gene].

Khosravi Shahi P et al.

Anales De Medicina Interna (madrid, Spain : 1984), 2005

Silencers regulate both constitutive and alternative splicing events in mammals.

Pozzoli U et al.

Cellular and Molecular Life Sciences : Cmls, 2005

Disease associations and altered immune function in CD45 138G variant carriers.

Boxall S et al.

Human Molecular Genetics, 2004

Altered CD45 isoform expression affects lymphocyte function in CD45 Tg mice.

Tchilian EZ et al.

International Immunology, 2004

CD45 variant alleles: possibly increased frequency of a novel exon 4 CD45 polymorphism in HIV seropositive Ugandans.

Stanton T et al.

Immunogenetics, 2004

CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers.

Gomez-Lira M et al.

Journal of Neuroimmunology, 2003

A high-frequency polymorphism in exon 6 of the CD45 tyrosine phosphatase gene (PTPRC) resulting in altered isoform expression.

Stanton T et al.

Proceedings of the National Academy of Sciences of the United States of America, 2003

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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."