CFTR c.310_312delinsTGT ;(p.R104C)

Variant ID: 7-117170989-AGA-TGT

NM_000492.3(CFTR):c.310_312delinsTGT;(p.R104C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: R104C
PubMed Link: 26684250
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.

The Journal Of General Physiology
Cui, Guiying G; Rahman, Kazi S KS; Infield, Daniel T DT; Kuang, Christopher C; Prince, Chengyu Z CZ; McCarty, Nael A NA
Publication Date: 2014-08

Variant appearance in text: CFTR: R104C
PubMed Link: 25024266
Variant Present in the following documents:
  • Main text
  • JGP_201311122.pdf
View BVdb publication page



Alternating access to the transmembrane domain of the ATP-binding cassette protein cystic fibrosis transmembrane conductance regulator (ABCC7).

The Journal Of Biological Chemistry
Wang, Wuyang W; Linsdell, Paul P
Publication Date: 2012-03-23

Variant appearance in text: CFTR: R104C
PubMed Link: 22303012
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alignment of transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

The Journal Of General Physiology
Wang, Wuyang W; El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2011-08

Variant appearance in text: CFTR: R104C
PubMed Link: 21746847
Variant Present in the following documents:
  • Main text
  • JGP_201110605.pdf
View BVdb publication page