JAK2 c.2331G>A ;(p.W777*)

Variant ID: 9-5080580-G-A

NM_004972.3(JAK2):c.2331G>A;(p.W777*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: JAK2: W777X
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: JAK2: 2331G>A; W777*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Modelling mutational landscapes of human cancers in vitro.

Scientific Reports
Olivier, Magali M; Weninger, Annette A; Ardin, Maude M; Huskova, Hana H; Castells, Xavier X; Vallée, Maxime P MP; McKay, James J; Nedelko, Tatiana T; Muehlbauer, Karl-Rudolf KR; Marusawa, Hiroyuki H; Alexander, John J; Hazelwood, Lee L; Byrnes, Graham G; Hollstein, Monica M; Zavadil, Jiri J
Publication Date: 2014-03-27

Variant appearance in text: JAK2: W777X
PubMed Link: 24670820
Variant Present in the following documents:
  • srep04482-s4.xls, sheet 17
View BVdb publication page



Enu mutagenesis identifies a novel platelet phenotype in a loss-of-function Jak2 allele.

Plos One
Anderson, Nicole M NM; Javadi, Mojib M; Berndl, Elizabeth E; Berberovic, Zorana Z; Bailey, Monica L ML; Huang, Kai K; Flenniken, Ann M AM; Osborne, Lucy R LR; Adamson, S Lee SL; Rossant, Janet J; Carter-Su, Christin C; Wang, Chen C; McNagny, Kelly M KM; Paulson, Robert F RF; Minden, Mark D MD; Stanford, William L WL; Barber, Dwayne L DL
Publication Date: 2013

Variant appearance in text: JAK2: W777X
PubMed Link: 24086539
Variant Present in the following documents:
  • Main text
  • pone.0075472.pdf
View BVdb publication page