Bibliome.ai browser hg19
Search
About
Stats
FAQ
CFTR c.283A>C ;(p.K95Q)
Variant ID: 7-117170962-A-C
NM_000492.3(
CFTR
):c.283A>C;(p.K95Q)
This variant was identified in 4 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: K95Q
PubMed Link:
35101441
Variant Present in the following documents:
Main text
mmc1.pdf
main.pdf
View BVdb publication page
Structural mechanisms of CFTR function and dysfunction.
The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02
Variant appearance in text: CFTR: K95Q
PubMed Link:
29581173
Variant Present in the following documents:
Main text
JGP_201711946.pdf
View BVdb publication page
Cystic fibrosis transmembrane conductance regulator chloride channel blockers: Pharmacological, biophysical and physiological relevance.
World Journal Of Biological Chemistry
Linsdell, Paul P
Publication Date: 2014-02-26
Variant appearance in text: CFTR: K95Q
PubMed Link:
24600512
Variant Present in the following documents:
Main text
View BVdb publication page
Tuning of CFTR chloride channel function by location of positive charges within the pore.
Biophysical Journal
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-10-17
Variant appearance in text: CFTR: K95Q
PubMed Link:
23083715
Variant Present in the following documents:
Main text
View BVdb publication page