JAK2 c.1642-310C>T

Variant ID: 9-5072182-C-T

NM_004972.3(JAK2):c.1642-310C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The Contribution of JAK2 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms.

International Journal Of Molecular Sciences
Paes, Jhemerson J; Silva, George A V GAV; Tarragô, Andréa M AM; Mourão, Lucivana P de Souza LPS
Publication Date: 2022-10-20

Variant appearance in text: rs12335546
PubMed Link: 36293440
Variant Present in the following documents:
  • Main text
  • ijms-23-12582.pdf
View BVdb publication page



Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: JAK2: 1642-310C>T; rs12335546
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs12335546
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population.

Bmc Medical Genetics
Ohyashiki, Junko H JH; Yoneta, Masayuki M; Hisatomi, Hisashi H; Iwabuchi, Tamiko T; Umezu, Tomohiro T; Ohyashiki, Kazuma K
Publication Date: 2012-01-17

Variant appearance in text: rs12335546
PubMed Link: 22251709
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-6.pdf
View BVdb publication page