EGF c.46_47delinsCA ;(p.S16H)

Variant ID: 4-110834537-AG-CA

NM_001963.4(EGF):c.46_47delinsCA;(p.S16H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


mTORC1 feedback to AKT modulates lysosomal biogenesis through MiT/TFE regulation.

The Journal Of Clinical Investigation
Asrani, Kaushal K; Murali, Sanjana S; Lam, Brandon B; Na, Chan-Hyun CH; Phatak, Pornima P; Sood, Akshay A; Kaur, Harsimar H; Khan, Zoya Z; Noë, Michaël M; Anchoori, Ravi K RK; Talbot, C Conover CC; Smith, Barbara B; Skaro, Michael M; Lotan, Tamara L TL
Publication Date: 2019-12-02

Variant appearance in text: EGF: S16H
PubMed Link: 31527310
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ubiquitination of Rheb governs growth factor-induced mTORC1 activation.

Cell Research
Deng, Lu L; Chen, Lei L; Zhao, Linlin L; Xu, Yan Y; Peng, Xiaoping X; Wang, Xinbo X; Ding, Lin L; Jin, Jiali J; Teng, Hongqi H; Wang, Yanming Y; Pan, Weijuan W; Yu, Fei F; Liao, Lujian L; Li, Li L; Ge, Xin X; Wang, Ping P
Publication Date: 2019-02

Variant appearance in text: EGF: S16H
PubMed Link: 30514904
Variant Present in the following documents:
  • Main text
  • 41422_2018_Article_120.pdf
View BVdb publication page