Varaico: Literature-Extracted Genetic Variants

Gene:APCS
Variant:p.T53I
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APCS

NM_001639.4:p.T53I

Associated Papers

SAP increases FynT kinase activity and is required for phosphorylation of SLAM and Ly9.

Simarro M et al.

International Immunology, 2004

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

Engel P et al.

Nature Reviews. Immunology, 2003

SAP couples Fyn to SLAM immune receptors.

Chan B et al.

Nature Cell Biology, 2003

A "three-pronged" binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome.

Hwang PM et al.

The Embo Journal, 2002

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