CFTR c.916A>G ;(p.N306D)

Variant ID: 7-117180200-A-G

NM_000492.3(CFTR):c.916A>G;(p.N306D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structural mechanisms for defective CFTR gating caused by the Q1412X mutation, a severe Class VI pathogenic mutation in cystic fibrosis.

The Journal Of Physiology
Yeh, Jiunn-Tyng JT; Yu, Ying-Chun YC; Hwang, Tzyh-Chang TC
Publication Date: 2019-01

Variant appearance in text: CFTR: N306D
PubMed Link: 30408177
Variant Present in the following documents:
  • Main text
View BVdb publication page



CFTR gating: Invisible transitions made visible.

The Journal Of General Physiology
Csanády, László L
Publication Date: 2017-04-03

Variant appearance in text: CFTR: N306D
PubMed Link: 28264886
Variant Present in the following documents:
  • Main text
  • JGP_201711777.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: N306D
PubMed Link: 28242630
Variant Present in the following documents:
  • Main text
View BVdb publication page