TTN c.227G>T ;(p.G76V)

Variant ID: 2-179666933-C-A

NM_001267550.1(TTN):c.227G>T;(p.G76V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Ubiquilins Chaperone and Triage Mitochondrial Membrane Proteins for Degradation.

Molecular Cell
Itakura, Eisuke E; Zavodszky, Eszter E; Shao, Sichen S; Wohlever, Matthew L ML; Keenan, Robert J RJ; Hegde, Ramanujan S RS
Publication Date: 2016-07-07

Variant appearance in text: TMD: G76V
PubMed Link: 27345149
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



p97 functions as an auxiliary factor to facilitate TM domain extraction during CFTR ER-associated degradation.

The Embo Journal
Carlson, Eric J EJ; Pitonzo, David D; Skach, William R WR
Publication Date: 2006-10-04

Variant appearance in text: TMD: G76V
PubMed Link: 16977321
Variant Present in the following documents:
  • Main text
View BVdb publication page