CFTR c.3871_3872delinsGG ;(p.Q1291G)

Variant ID: 7-117282645-CA-GG

NM_000492.3(CFTR):c.3871_3872delinsGG;(p.Q1291G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutating the Conserved Q-loop Glutamine 1291 Selectively Disrupts Adenylate Kinase-dependent Channel Gating of the ATP-binding Cassette (ABC) Adenylate Kinase Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) and Reduces Channel Function in Primary Human Airway Epithelia.

The Journal Of Biological Chemistry
Dong, Qian Q; Ernst, Sarah E SE; Ostedgaard, Lynda S LS; Shah, Viral S VS; Ver Heul, Amanda R AR; Welsh, Michael J MJ; Randak, Christoph O CO
Publication Date: 2015-05-29

Variant appearance in text: CFTR: Q1291G
PubMed Link: 25887396
Variant Present in the following documents:
  • Main text
  • zbc14140.pdf
View BVdb publication page