CFTR c.1090T>G ;(p.S364A)

Variant ID: 7-117180374-T-G

NM_000492.3(CFTR):c.1090T>G;(p.S364A)

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: S364A
PubMed Link: 31164398
Variant Present in the following documents:
  • Main text
  • JGP_201912360.pdf
View BVdb publication page



Ser364 of connexin43 and the upregulation of gap junction assembly by cAMP.

The Journal Of Cell Biology
TenBroek, E M EM; Lampe, P D PD; Solan, J L JL; Reynhout, J K JK; Johnson, R G RG
Publication Date: 2001-12-24

Variant appearance in text: CFTR: S364A
PubMed Link: 11756479
Variant Present in the following documents:
  • 0102017.pdf
View BVdb publication page