PTEN c.316G>C ;(p.E106Q)

Variant ID: 10-89692832-G-C

NM_000314.4(PTEN):c.316G>C;(p.E106Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: PTEN: E106Q
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



mTORC1 enhancement of STIM1-mediated store-operated Ca2+ entry constrains tuberous sclerosis complex-related tumor development.

Oncogene
Peng, H H; Liu, J J; Sun, Q Q; Chen, R R; Wang, Y Y; Duan, J J; Li, C C; Li, B B; Jing, Y Y; Chen, X X; Mao, Q Q; Xu, K-F KF; Walker, C L CL; Li, J J; Wang, J J; Zhang, H H
Publication Date: 2013-09-26

Variant appearance in text: PTEN: E106Q
PubMed Link: 23108404
Variant Present in the following documents:
  • Main text
View BVdb publication page