CFTR c.2725A>T ;(p.S909C)

Variant ID: 7-117243653-A-T

NM_000492.3(CFTR):c.2725A>T;(p.S909C)

This variant was identified in 2 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: S909C
PubMed Link: 29581173
Variant Present in the following documents:
  • JGP_201711946_TableS1.pdf
View BVdb publication page



Multiple membrane-cytoplasmic domain contacts in the cystic fibrosis transmembrane conductance regulator (CFTR) mediate regulation of channel gating.

The Journal Of Biological Chemistry
He, Lihua L; Aleksandrov, Andrei A AA; Serohijos, Adrian W R AW; Hegedus, Tamás T; Aleksandrov, Luba A LA; Cui, Liying L; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2008-09-26

Variant appearance in text: CFTR: S909C
PubMed Link: 18658148
Variant Present in the following documents:
  • Main text
View BVdb publication page