CFTR c.3088_3089delinsGA ;(p.R1030E)

Variant ID: 7-117250672-AG-GA

NM_000492.3(CFTR):c.3088_3089delinsGA;(p.R1030E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Positive charges at the intracellular mouth of the pore regulate anion conduction in the CFTR chloride channel.

The Journal Of General Physiology
Aubin, Chantal N St CN; Linsdell, Paul P
Publication Date: 2006-11

Variant appearance in text: CFTR: R1030E
PubMed Link: 17043152
Variant Present in the following documents:
  • Main text
  • jgp1280535.pdf
View BVdb publication page



Halide permeation in wild-type and mutant cystic fibrosis transmembrane conductance regulator chloride channels.

The Journal Of General Physiology
Tabcharani, J A JA; Linsdell, P P; Hanrahan, J W JW
Publication Date: 1997-10

Variant appearance in text: CFTR: R1030E
PubMed Link: 9379167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Locating the anion-selectivity filter of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel.

The Journal Of General Physiology
Cheung, M M; Akabas, M H MH
Publication Date: 1997-03

Variant appearance in text: CFTR: R1030E
PubMed Link: 9089437
Variant Present in the following documents:
  • Main text
  • 7357.pdf
View BVdb publication page