CFTR c.916_917delinsTG ;(p.N306C)

Variant ID: 7-117180200-AA-TG

NM_000492.3(CFTR):c.916_917delinsTG;(p.N306C)

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: N306C
PubMed Link: 29581173
Variant Present in the following documents:
  • JGP_201711946_TableS1.pdf
View BVdb publication page



Electrostatic tuning of the pre- and post-hydrolytic open states in CFTR.

The Journal Of General Physiology
Zhang, Jingyao J; Hwang, Tzyh-Chang TC
Publication Date: 2017-03-06

Variant appearance in text: CFTR: N306C
PubMed Link: 28242630
Variant Present in the following documents:
  • Main text
  • JGP_201611664.pdf
View BVdb publication page



The Fifth Transmembrane Segment of Cystic Fibrosis Transmembrane Conductance Regulator Contributes to Its Anion Permeation Pathway.

Biochemistry
Zhang, Jingyao J; Hwang, Tzyh-Chang TC
Publication Date: 2015-06-23

Variant appearance in text: CFTR: N306C
PubMed Link: 26024338
Variant Present in the following documents:
  • Main text
View BVdb publication page



Probing the structure of the diphtheria toxin channel. Reactivity in planar lipid bilayer membranes of cysteine-substituted mutant channels with methanethiosulfonate derivatives.

The Journal Of General Physiology
Huynh, P D PD; Cui, C C; Zhan, H H; Oh, K J KJ; Collier, R J RJ; Finkelstein, A A
Publication Date: 1997-09

Variant appearance in text: CFTR: N306C
PubMed Link: 9276751
Variant Present in the following documents:
  • Main text
  • GP-7544.pdf
View BVdb publication page