CFTR c.2507A>C ;(p.D836A)

Variant ID: 7-117235000-A-C

NM_000492.3(CFTR):c.2507A>C;(p.D836A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Regulation of activation and processing of the cystic fibrosis transmembrane conductance regulator (CFTR) by a complex electrostatic interaction between the regulatory domain and cytoplasmic loop 3.

The Journal Of Biological Chemistry
Wang, Guangyu G; Duan, Dayue Darrel DD
Publication Date: 2012-11-23

Variant appearance in text: CFTR: D836A
PubMed Link: 23060444
Variant Present in the following documents:
  • Main text
View BVdb publication page



State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.

The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2010-12-24

Variant appearance in text: CFTR: D836A
PubMed Link: 20952391
Variant Present in the following documents:
  • Main text
View BVdb publication page