CFTR c.3435G>C ;(p.W1145C)

Variant ID: 7-117254734-G-C

NM_000492.3(CFTR):c.3435G>C;(p.W1145C)

This variant was identified in 6 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: W1145C
PubMed Link: 29581173
Variant Present in the following documents:
  • JGP_201711946_TableS1.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: W1145C
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: W1145C
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: W1145C
PubMed Link: 22042986
Variant Present in the following documents:
  • Main text
  • JGP_201110705.pdf
View BVdb publication page



The V510D suppressor mutation stabilizes DeltaF508-CFTR at the cell surface.

Biochemistry
Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM
Publication Date: 2010-08-03

Variant appearance in text: CFTR: W1145C
PubMed Link: 20590134
Variant Present in the following documents:
  • Main text
  • bi100807h.pdf
View BVdb publication page



The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR-processing mutants.

The Biochemical Journal
Loo, Tip W TW; Bartlett, M Claire MC; Wang, Ying Y; Clarke, David M DM
Publication Date: 2006-05-01

Variant appearance in text: CFTR: W1145C
PubMed Link: 16417523
Variant Present in the following documents:
  • Main text
View BVdb publication page