CFTR c.3421A>T ;(p.S1141C)

Variant ID: 7-117254720-A-T

NM_000492.3(CFTR):c.3421A>T;(p.S1141C)

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: S1141C
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: S1141C
PubMed Link: 28640808
Variant Present in the following documents:
  • Main text
  • pcbi.1005594.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: S1141C
PubMed Link: 25143385
Variant Present in the following documents:
  • Main text
View BVdb publication page


Structural basis for the channel function of a degraded ABC transporter, CFTR (ABCC7).

The Journal Of General Physiology
Bai, Yonghong Y; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2011-11

Variant appearance in text: CFTR: S1141C
PubMed Link: 22042986
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: S1141C
PubMed Link: 21746847
Variant Present in the following documents:
  • Main text
  • JGP_201110605.pdf
View BVdb publication page


Regulation of conductance by the number of fixed positive charges in the intracellular vestibule of the CFTR chloride channel pore.

The Journal Of General Physiology
Zhou, Jing-Jun JJ; Li, Man-Song MS; Qi, Jiansong J; Linsdell, Paul P
Publication Date: 2010-03

Variant appearance in text: CFTR: S1141C
PubMed Link: 20142516
Variant Present in the following documents:
  • Main text
  • JGP_200910327.pdf
View BVdb publication page