Overview




Nucleotide ID c.1128_1154delinsGTGTC
Protein ID p.K375Cfs*46
Mutation Deletion+Insertion
Type Type other
Class Class C (C2)
Category #NA
COSMIC #NA
Pathologie Essential thrombocythaemia


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 936776238889999999999999999999999999999999999999449999994399
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHH
  AA: AAEKQMKDKQDEEQRLKEEEEDKKRCRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCR
              10        20        30        40        50        60
Conf: 9998202139
Pred: HHHHHHHHCC
  AA: EACLQGWTEA
              70

References


PMIDCitation
29306106Gángó A, Mózes R, Boha Z, et al. Quantitative assessment of JAK2 V617F and CALR mutations in Philadelphia negative myeloproliferative neoplasms. Leuk Res. 2018.65:42-48. doi:10.1016/j.leukres.2017.12.005