CFTR c.349_351delinsGAG ;(p.R117E)

Variant ID: 7-117171028-CGC-GAG

NM_000492.3(CFTR):c.349_351delinsGAG;(p.R117E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator.

The Journal Of Physiology
Yu, Ying-Chun YC; Sohma, Yoshiro Y; Hwang, Tzyh-Chang TC
Publication Date: 2016-06-15

Variant appearance in text: CFTR: R117E
PubMed Link: 26846474
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: R117E
PubMed Link: 25024266
Variant Present in the following documents:
  • Main text
  • supp_jgp.201311122_JGP_201311122_sm.pdf
  • JGP_201311122.pdf
View BVdb publication page