Variant: rs121913615 

    present in Gene: MPL
    present in Chromosome: 1
    Position on Chromosome: 43349338
    Alleles of this Variant: G/C;T

rs121913615 in MPL gene and Hematologic Neoplasms PMID 16834459 2006 MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.

rs121913615 in MPL gene and Myelofibrosis PMID 16868251 2006 MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients.

PMID 16834459 2006 DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF.

rs121913615 in MPL gene and THROMBOCYTHEMIA 2 PMID 23441089 2013 MPL W515L mutation in pediatric essential thrombocythemia.

PMID 25538044 2015 The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.

PMID 14764528 2004 Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin.

PMID 19483125 2009 The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity.