CFTR c.346_348delinsTGT ;(p.E116C)

Variant ID: 7-117171025-GAA-TGT

NM_000492.3(CFTR):c.346_348delinsTGT;(p.E116C)

This variant was identified in 2 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: E116C
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: E116C
PubMed Link: 25024266
Variant Present in the following documents:
  • Main text
  • JGP_201311122.pdf
View BVdb publication page