CFTR c.568_570delinsTGT ;(p.K190C)

Variant ID: 7-117174408-AAA-TGT

NM_000492.3(CFTR):c.568_570delinsTGT;(p.K190C)

This variant was identified in 7 publications

View GRCh38 version.




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: K190C
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.pdf
View BVdb publication page



Transmembrane helical interactions in the CFTR channel pore.

Plos Computational Biology
Das, Jhuma J; Aleksandrov, Andrei A AA; Cui, Liying L; He, Lihua L; Riordan, John R JR; Dokholyan, Nikolay V NV
Publication Date: 2017-06

Variant appearance in text: CFTR: K190C
PubMed Link: 28640808
Variant Present in the following documents:
  • Main text
  • pcbi.1005594.pdf
View BVdb publication page



Functional Architecture of the Cytoplasmic Entrance to the Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Pore.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2015-06-19

Variant appearance in text: CFTR: K190C
PubMed Link: 25944907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Converting nonhydrolyzable nucleotides to strong cystic fibrosis transmembrane conductance regulator (CFTR) agonists by gain of function (GOF) mutations.

The Journal Of Biological Chemistry
Okeyo, George G; Wang, Wei W; Wei, Shipeng S; Kirk, Kevin L KL
Publication Date: 2013-06-14

Variant appearance in text: CFTR: K190C
PubMed Link: 23620589
Variant Present in the following documents:
  • Main text
View BVdb publication page



Thermally unstable gating of the most common cystic fibrosis mutant channel (ΔF508): "rescue" by suppressor mutations in nucleotide binding domain 1 and by constitutive mutations in the cytosolic loops.

The Journal Of Biological Chemistry
Wang, Wei W; Okeyo, George O GO; Tao, Binli B; Hong, Jeong S JS; Kirk, Kevin L KL
Publication Date: 2011-12-09

Variant appearance in text: CFTR: K190C
PubMed Link: 21965669
Variant Present in the following documents:
  • Main text
View BVdb publication page



The inhibition mechanism of non-phosphorylated Ser768 in the regulatory domain of cystic fibrosis transmembrane conductance regulator.

The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2011-01-21

Variant appearance in text: CFTR: K190C
PubMed Link: 21059651
Variant Present in the following documents:
  • Main text
View BVdb publication page



ATP-independent CFTR channel gating and allosteric modulation by phosphorylation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Wei W; Wu, Jianping J; Bernard, Karen K; Li, Ge G; Wang, Guangyu G; Bevensee, Mark O MO; Kirk, Kevin L KL
Publication Date: 2010-02-23

Variant appearance in text: CFTR: K190C
PubMed Link: 20133716
Variant Present in the following documents:
  • Main text
View BVdb publication page