CFTR c.319_320delinsTG ;(p.A107C)

Variant ID: 7-117170998-GC-TG

NM_000492.3(CFTR):c.319_320delinsTG;(p.A107C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02

Variant appearance in text: CFTR: A107C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
View BVdb publication page



Positioning of extracellular loop 1 affects pore gating of the cystic fibrosis transmembrane conductance regulator.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Infield, Daniel T DT; Cui, Guiying G; Kuang, Christopher C; McCarty, Nael A NA
Publication Date: 2016-03-01

Variant appearance in text: CFTR: A107C
PubMed Link: 26684250
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cysteine scanning of CFTR's first transmembrane segment reveals its plausible roles in gating and permeation.

Biophysical Journal
Gao, Xiaolong X; Bai, Yonghong Y; Hwang, Tzyh-Chang TC
Publication Date: 2013-02-19

Variant appearance in text: CFTR: A107C
PubMed Link: 23442957
Variant Present in the following documents:
  • Main text
View BVdb publication page