CFTR c.275A>C ;(p.E92A)

Variant ID: 7-117170954-A-C

NM_000492.3(CFTR):c.275A>C;(p.E92A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mechanisms of CFTR Folding at the Endoplasmic Reticulum.

Frontiers In Pharmacology
Kim, Soo Jung SJ; Skach, William R WR
Publication Date: 2012

Variant appearance in text: CFTR: E92A
PubMed Link: 23248597
Variant Present in the following documents:
  • Main text
  • fphar-03-00201.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: CFTR: E92A
PubMed Link: 16977321
Variant Present in the following documents:
  • Main text
View BVdb publication page