Bibliome.ai browser hg19
Search
About
Stats
FAQ
CFTR c.400_401delinsCA ;(p.R134Q)
Variant ID: 7-117171079-AG-CA
NM_000492.3(
CFTR
):c.400_401delinsCA;(p.R134Q)
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:
Functionally additive fixed positive and negative charges in the CFTR channel pore control anion binding and conductance.
The Journal Of Biological Chemistry
Linsdell, Paul P; Irving, Christina L CL; Cowley, Elizabeth A EA
Publication Date: 2022-03
Variant appearance in text: CFTR: R134Q
PubMed Link:
35101441
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
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: R134Q
PubMed Link:
17043152
Variant Present in the following documents:
Main text
jgp1280535.pdf
View BVdb publication page