CFTR c.2425_2426delinsAG ;(p.S809R)

Variant ID: 7-117232646-TC-AG

NM_000492.3(CFTR):c.2425_2426delinsAG;(p.S809R)

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:

Mutations in the linker domain of NBD2 of SUR inhibit transduction but not nucleotide binding.

The Embo Journal
Matsuo, Michinori M; Dabrowski, Michael M; Ueda, Kazumitsu K; Ashcroft, Frances M FM
Publication Date: 2002-08-15

Variant appearance in text: CFTR: S809R
PubMed Link: 12169627
Variant Present in the following documents:
  • Main text
View BVdb publication page