CFTR c.1068G>T ;(p.W356C)

Variant ID: 7-117180352-G-T

NM_000492.3(CFTR):c.1068G>T;(p.W356C)

This variant was identified in 4 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: W356C
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: W356C
PubMed Link: 28640808
Variant Present in the following documents:
  • Main text
  • pcbi.1005594.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: W356C
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: W356C
PubMed Link: 16417523
Variant Present in the following documents:
  • Main text
View BVdb publication page