Bibliome.ai browser hg19
Search
About
Stats
FAQ
CFTR c.799_800delinsAG ;(p.E267R)
Variant ID: 7-117176657-GA-AG
NM_000492.3(
CFTR
):c.799_800delinsAG;(p.E267R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
G551D mutation impairs PKA-dependent activation of CFTR channel that can be restored by novel GOF mutations.
American Journal Of Physiology. Lung Cellular And Molecular Physiology
Wang, Wei W; Fu, Lianwu L; Liu, Zhiyong Z; Wen, Hui H; Rab, Andras A; Hong, Jeong S JS; Kirk, Kevin L KL; Rowe, Steven M SM
Publication Date: 2020-11-01
Variant appearance in text: CFTR: E267R
PubMed Link:
32877225
Variant Present in the following documents:
Main text
View BVdb publication page
An electrostatic interaction at the tetrahelix bundle promotes phosphorylation-dependent cystic fibrosis transmembrane conductance regulator (CFTR) channel opening.
The Journal Of Biological Chemistry
Wang, Wei W; Roessler, Bryan C BC; Kirk, Kevin L KL
Publication Date: 2014-10-31
Variant appearance in text: CFTR: E267R
PubMed Link:
25190805
Variant Present in the following documents:
Main text
View BVdb publication page