JAK2 c.388_389delinsCA ;(p.R130Q)

Variant ID: 9-5044440-AG-CA

NM_004972.3(JAK2):c.388_389delinsCA;(p.R130Q)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Alteration in molecular properties during establishment and passaging of endometrial carcinoma patient-derived xenografts.

Scientific Reports
Imai, Toshio T; Yoshida, Hiroshi H; Machida, Yukino Y; Kuramochi, Mizuki M; Ichikawa, Hitoshi H; Kubo, Takashi T; Takahashi, Mami M; Kato, Tomoyasu T
Publication Date: 2023-05-25

Variant appearance in text: JAK2: R130Q
PubMed Link: 37231035
Variant Present in the following documents:
  • 41598_2023_35703_MOESM1_ESM.pdf
View BVdb publication page



Significance of Interleukin (IL)-4 and IL-13 in Inflammatory Arthritis.

Cells
Iwaszko, Milena M; Biały, Sylwia S; Bogunia-Kubik, Katarzyna K
Publication Date: 2021-11-03

Variant appearance in text: JAK2: Arg130Gln
PubMed Link: 34831223
Variant Present in the following documents:
  • cells-10-03000.pdf
View BVdb publication page



Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Cancer Research And Treatment
Lee, Youngwoo Y; Lee, Soohyeon S; Sung, Jae Sook JS; Chung, Hee-Joon HJ; Lim, Ah-Reum AR; Kim, Ju Won JW; Choi, Yoon Ji YJ; Park, Kyong Hwa KH; Kim, Yeul Hong YH
Publication Date: 2021-01

Variant appearance in text: JAK2: R130Q
PubMed Link: 32810930
Variant Present in the following documents:
  • crt-2020-559-suppl3.pdf
View BVdb publication page



Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports
Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP
Publication Date: 2019-09-23

Variant appearance in text: JAK2: Arg130Gln
PubMed Link: 31548566
Variant Present in the following documents:
  • 41598_2019_49611_MOESM1_ESM.pdf
View BVdb publication page



Interleukin-13 signaling and its role in asthma.

The World Allergy Organization Journal
Rael, Efren L EL; Lockey, Richard F RF
Publication Date: 2011-03

Variant appearance in text: JAK2: Arg130Gln
PubMed Link: 23283176
Variant Present in the following documents:
  • Main text
View BVdb publication page