MUC16 c.8568G>T ;(p.E2856D)

Variant ID: 19-9083247-C-A

NM_024690.2(MUC16):c.8568G>T;(p.E2856D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Huang, Huiyan H; Pan, Jiehong J; Spielberg, David R DR; Hanchard, Neil A NA; Scott, Daryl A DA; Burrage, Lindsay C LC; Dai, Hongzheng H; Murdock, David D; Rosenfeld, Jill A JA; Mohammad, Ariz A; Huang, Tao T; Lindsey, Anika G AG; Kim, Hyori H; Chen, Jian J; Ramu, Avinash A; Morrison, Stephanie A SA; Dawson, Zachary D ZD; Hu, Alex Z AZ; Tycksen, Eric E; Silverman, Gary A GA; Baldridge, Dustin D; Wambach, Jennifer A JA; , ; Pak, Stephen C SC; Brody, Steven L SL; Schedl, Tim T
Publication Date: 2022-02-08

Variant appearance in text: MUC16: 8568G>T; Glu2856Asp
PubMed Link: 35121658
Variant Present in the following documents:
  • pnas.2105228119.sapp.pdf
View BVdb publication page



A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Huang, Huiyan H; Pan, Jiehong J; Spielberg, David R DR; Hanchard, Neil A NA; Scott, Daryl A DA; Burrage, Lindsay C LC; Dai, Hongzheng H; Murdock, David D; Rosenfeld, Jill A JA; Mohammad, Ariz A; Huang, Tao T; Lindsey, Anika G AG; Kim, Hyori H; Chen, Jian J; Ramu, Avinash A; Morrison, Stephanie A SA; Dawson, Zachary D ZD; Hu, Alex Z AZ; Tycksen, Eric E; Silverman, Gary A GA; Baldridge, Dustin D; Wambach, Jennifer A JA; , ; Pak, Stephen C SC; Brody, Steven L SL; Schedl, Tim T
Publication Date: 2022-02-08

Variant appearance in text: MUC16: 8568G>T; Glu2856Asp
PubMed Link: 35121658
Variant Present in the following documents:
  • pnas.2105228119.sapp.pdf
View BVdb publication page