CFTR c.649_651delinsTGT ;(p.E217C)

Variant ID: 7-117175371-GAG-TGT

NM_000492.3(CFTR):c.649_651delinsTGT;(p.E217C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: E217C
PubMed Link: 25024266
Variant Present in the following documents:
  • supp_jgp.201311122_JGP_201311122_sm.pdf
View BVdb publication page



Modeling the conformational changes underlying channel opening in CFTR.

Plos One
Rahman, Kazi S KS; Cui, Guiying G; Harvey, Stephen C SC; McCarty, Nael A NA
Publication Date: 2013

Variant appearance in text: CFTR: E217C
PubMed Link: 24086355
Variant Present in the following documents:
  • Main text
  • pone.0074574.pdf
View BVdb publication page