Overview



Nucleotide ID c.1121_1139del
Protein ID p.K374Rfs*50
Mutation Deletion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV57139502
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 936776237789999999999999999999999999999999999999944999999439


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCH


  AA: AAEKQMKDKQDEEQRLKEEEEDRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSC


              10        20        30        40        50        60


Conf: 99998202139


Pred: HHHHHHHHHCC


  AA: REACLQGWTEA


              70

References

PMIDCitation
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
24325356Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013.369(25):2379-2390. doi:10.1056/NEJMoa1311347