CFTR c.2848C>G ;(p.H950D)

Variant ID: 7-117243776-C-G

NM_000492.3(CFTR):c.2848C>G;(p.H950D)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: H950D
PubMed Link: 23060444
Variant Present in the following documents:
  • Main text
View BVdb publication page


The inhibition mechanism of non-phosphorylated Ser768 in the regulatory domain of cystic fibrosis transmembrane conductance regulator.

The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2011-01-21

Variant appearance in text: CFTR: H950D
PubMed Link: 21059651
Variant Present in the following documents:
  • Main text
View BVdb publication page