JAK2 c.1778C>T ;(p.S593F)

Variant ID: 9-5073699-C-T

NM_004972.3(JAK2):c.1778C>T;(p.S593F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: JAK2: 1778C>T; Ser593Phe
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s008.xlsx, sheet 1
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



The use of whole exome sequencing and murine patient derived xenografts as a method of chemosensitivity testing in sarcoma.

Clinical Sarcoma Research
Calvert, Nicholas N; Wu, Jiansha J; Sneddon, Sophie S; Woodhouse, Jennifer J; Carey-Smith, Richard R; Wood, David D; Ingley, Evan E
Publication Date: 2018

Variant appearance in text: JAK2: S593F
PubMed Link: 29541442
Variant Present in the following documents:
  • Main text
  • 13569_2018_Article_90.pdf
View BVdb publication page