PC c.31_32delinsTC ;(p.L11S)

Variant ID: 11-66639599-AG-GA

NM_001040716.1(PC):c.31_32delinsTC;(p.L11S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


α-Catenin levels determine direction of YAP/TAZ response to autophagy perturbation.

Nature Communications
Pavel, Mariana M; Park, So Jung SJ; Frake, Rebecca A RA; Son, Sung Min SM; Manni, Marco M MM; Bento, Carla F CF; Renna, Maurizio M; Ricketts, Thomas T; Menzies, Fiona M FM; Tanasa, Radu R; Rubinsztein, David C DC
Publication Date: 2021-03-17

Variant appearance in text: PC: L11S
PubMed Link: 33731717
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_21882.pdf
View BVdb publication page



Properties of two cataract-associated mutations located in the NH2 terminus of connexin 46.

American Journal Of Physiology. Cell Physiology
Tong, Jun-Jie JJ; Sohn, Bonnie C H BC; Lam, Anh A; Walters, D Eric DE; Vertel, Barbara M BM; Ebihara, Lisa L
Publication Date: 2013-05-01

Variant appearance in text: PC: L11S
PubMed Link: 23302783
Variant Present in the following documents:
  • Main text
View BVdb publication page