CFTR c.2290_2291delinsGC ;(p.R764A)

Variant ID: 7-117232511-CG-GC

NM_000492.3(CFTR):c.2290_2291delinsGC;(p.R764A)

This variant was identified in 1 publication

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: R764A
PubMed Link: 23060444
Variant Present in the following documents:
  • Main text
View BVdb publication page