CFTR c.2848_2849delinsGC ;(p.H950A)

Variant ID: 7-117243776-CA-GC

NM_000492.3(CFTR):c.2848_2849delinsGC;(p.H950A)

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:

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: H950A
PubMed Link: 21059651
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: H950A
PubMed Link: 20952391
Variant Present in the following documents:
  • Main text
View BVdb publication page