Gene: SLFN14

Alternate names for this Gene: BDPLT20

Gene Summary: The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding.

Gene is located in Chromosome: 17

Location in Chromosome : 17q12

Description of this Gene: schlafen family member 14

Type of Gene: protein-coding

rs757188030 in SLFN14 gene and BLEEDING DISORDER, PLATELET-TYPE, 20 PMID 26280575 2015 SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.

PMID 26769223 2016 SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia.

rs145171343 in SLFN14 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs10512472 in SLFN14 gene and Platelet Count measurement PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

rs145171343 in SLFN14 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.