CFTR c.1019T>A ;(p.I340N)

Variant ID: 7-117180303-T-A

NM_000492.3(CFTR):c.1019T>A;(p.I340N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

Jci Insight
Han, Sangwoo T ST; Rab, Andras A; Pellicore, Matthew J MJ; Davis, Emily F EF; McCague, Allison F AF; Evans, Taylor A TA; Joynt, Anya T AT; Lu, Zhongzhou Z; Cai, Zhiwei Z; Raraigh, Karen S KS; Hong, Jeong S JS; Sheppard, David N DN; Sorscher, Eric J EJ; Cutting, Garry R GR
Publication Date: 2018-07-26

Variant appearance in text: CFTR: I340N
PubMed Link: 30046002
Variant Present in the following documents:
  • Main text
View BVdb publication page



Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

The Journal Of Membrane Biology
Schlebach, Jonathan P JP; Sanders, Charles R CR
Publication Date: 2015-06

Variant appearance in text: CFTR: I340N
PubMed Link: 25192979
Variant Present in the following documents:
  • Main text
View BVdb publication page