CFTR c.2927T>G ;(p.F976C)

Variant ID: 7-117246746-T-G

NM_000492.3(CFTR):c.2927T>G;(p.F976C)

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: F976C
PubMed Link: 29581173
Variant Present in the following documents:
  • JGP_201711946_TableS1.pdf
View BVdb publication page



Role of the juxtamembrane region of cytoplasmic loop 3 in the gating and conductance of the cystic fibrosis transmembrane conductance regulator chloride channel.

Biochemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-05-15

Variant appearance in text: CFTR: F976C
PubMed Link: 22545782
Variant Present in the following documents:
  • Main text
  • bi300065z_si_001.pdf
  • bi300065z.pdf
View BVdb publication page