CFTR c.292_294delinsTGT ;(p.Q98C)

Variant ID: 7-117170971-CAG-TGT

NM_000492.3(CFTR):c.292_294delinsTGT;(p.Q98C)

This variant was identified in 6 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: Q98C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946_TableS1.pdf
  • JGP_201711946.pdf
View BVdb publication page


Metal bridges illuminate transmembrane domain movements during gating of the cystic fibrosis transmembrane conductance regulator chloride channel.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2014-10-10

Variant appearance in text: CFTR: Q98C
PubMed Link: 25143385
Variant Present in the following documents:
  • Main text
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: Q98C
PubMed Link: 24600512
Variant Present in the following documents:
  • Main text
View BVdb publication page


Cysteine scanning of CFTR's first transmembrane segment reveals its plausible roles in gating and permeation.

Biophysical Journal
Gao, Xiaolong X; Bai, Yonghong Y; Hwang, Tzyh-Chang TC
Publication Date: 2013-02-19

Variant appearance in text: CFTR: Q98C
PubMed Link: 23442957
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: Q98C
PubMed Link: 23083715
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alignment of transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

The Journal Of General Physiology
Wang, Wuyang W; El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2011-08

Variant appearance in text: CFTR: Q98C
PubMed Link: 21746847
Variant Present in the following documents:
  • Main text
  • JGP_201110605.pdf
View BVdb publication page