CFTR c.3421A>C ;(p.S1141R)

Variant ID: 7-117254720-A-C

NM_000492.3(CFTR):c.3421A>C;(p.S1141R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identifying the molecular target sites for CFTR potentiators GLPG1837 and VX-770.

The Journal Of General Physiology
Yeh, Han-I HI; Qiu, Liming L; Sohma, Yoshiro Y; Conrath, Katja K; Zou, Xiaoqin X; Hwang, Tzyh-Chang TC
Publication Date: 2019-07-01

Variant appearance in text: CFTR: S1141R
PubMed Link: 31164398
Variant Present in the following documents:
  • Main text
  • JGP_201912360.pdf
View BVdb publication page



Bithiazole correctors rescue CFTR mutants by two different mechanisms.

Biochemistry
Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM
Publication Date: 2013-08-06

Variant appearance in text: CFTR: S1141R
PubMed Link: 23865422
Variant Present in the following documents:
  • Main text
  • bi4008758.pdf
View BVdb publication page