CFTR c.2503_2504delinsCG ;(p.D835R)

Variant ID: 7-117234996-GA-CG

NM_000492.3(CFTR):c.2503_2504delinsCG;(p.D835R)

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: D835R
PubMed Link: 23060444
Variant Present in the following documents:
  • Main text
View BVdb publication page