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Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency

11 Jul 2024

Abstract excerpt

The ubiquitously expressed small GTPase Ras-related protein 1B (RAP1B) acts as a molecular switch that regulates cell signaling, cytoskeletal remodeling, and cell trafficking and activates integrins in platelets and lymphocytes. The residue G12 in the P-loop is required for the RAP1B-GTPase conformational switch. Heterozygous germline RAP1B variants have been described in patients with syndromic thrombocytopenia....

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PMID: 39225097
DOI: 10.1172/jci169994

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