CFTR c.1261A>G ;(p.T421A)

Variant ID: 7-117188746-A-G

NM_000492.3(CFTR):c.1261A>G;(p.T421A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A posttranslational modification code for CFTR maturation is altered in cystic fibrosis.

Science Signaling
Pankow, Sandra S; Bamberger, Casimir C; Yates, John R JR
Publication Date: 2019-01-01

Variant appearance in text: CFTR: T421A
PubMed Link: 30600261
Variant Present in the following documents:
  • Main text
View BVdb publication page



Activation mechanisms for the cystic fibrosis transmembrane conductance regulator protein involve direct binding of cAMP.

The Biochemical Journal
Pereira, Malcolm M C MM; Parker, Jody J; Stratford, Fiona L L FL; McPherson, Margaret M; Dormer, Robert L RL
Publication Date: 2007-07-01

Variant appearance in text: CFTR: T421A
PubMed Link: 17381427
Variant Present in the following documents:
  • Main text
View BVdb publication page