Overview




Nucleotide ID c.1152_1157del
Protein ID p.D384_K385del
Mutation Deletion
Type Type 2-like
Class Class E
Category #NA
COSMIC COSV100331222
Pathologie Essential thrombocythaemia


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935766337889999999999999999999863012454322227657767511799731
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCHHHHHHHHHHHHCCCCCCC
  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEEDDEDKDEDEEDEEDKEEDEEEDVPGQA
              10        20        30        40        50        60
Conf: 1139
Pred: CCCC
  AA: KDEL

References


PMIDCitation
31856623Polokhov DM, Ershov NM, Ignatova AA, et al. Platelet function and blood coagulation system status in childhood essential thrombocythemia. Platelets. 2020.31(8):1001-1011. doi:10.1080/09537104.2019.1704710
31554376Vu HA, Thao TT, Dong CV, et al. Clinical and Hematological Relevance of JAK2V617F, CALR, and MPL Mutations in Vietnamese Patients with Essential Thrombocythemia. Asian Pac J Cancer Prev. 2019.20(9):2775-2780. Published 2019 Sep 1. doi:10.31557/APJCP.2019.20.9.2775