TEK c.137C>A ;(p.A46D)

Variant ID: 9-27157913-C-A

NM_000459.3(TEK):c.137C>A;(p.A46D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Plos One
Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R
Publication Date: 2020

Variant appearance in text: TEK: 137C>A
PubMed Link: 32639993
Variant Present in the following documents:
  • pone.0235766.s008.xlsx, sheet 3
  • pone.0235766.s008.xlsx, sheet 5
View BVdb publication page



Engineering of human brain organoids with a functional vascular-like system.

Nature Methods
Cakir, Bilal B; Xiang, Yangfei Y; Tanaka, Yoshiaki Y; Kural, Mehmet H MH; Parent, Maxime M; Kang, Young-Jin YJ; Chapeton, Kayley K; Patterson, Benjamin B; Yuan, Yifan Y; He, Chang-Shun CS; Raredon, Micha Sam B MSB; Dengelegi, Jake J; Kim, Kun-Yong KY; Sun, Pingnan P; Zhong, Mei M; Lee, Sangho S; Patra, Prabir P; Hyder, Fahmeed F; Niklason, Laura E LE; Lee, Sang-Hun SH; Yoon, Young-Sup YS; Park, In-Hyun IH
Publication Date: 2019-11

Variant appearance in text: TEK: A46D
PubMed Link: 31591580
Variant Present in the following documents:
  • Main text
View BVdb publication page