CFTR c.2365_2367delinsTGT ;(p.A789C)

Variant ID: 7-117232586-GCA-TGT

NM_000492.3(CFTR):c.2365_2367delinsTGT;(p.A789C)

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:

Regulatory R region of the CFTR chloride channel is a dynamic integrator of phospho-dependent intra- and intermolecular interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bozoky, Zoltan Z; Krzeminski, Mickael M; Muhandiram, Ranjith R; Birtley, James R JR; Al-Zahrani, Ateeq A; Thomas, Philip J PJ; Frizzell, Raymond A RA; Ford, Robert C RC; Forman-Kay, Julie D JD
Publication Date: 2013-11-19

Variant appearance in text: CFTR: A789C
PubMed Link: 24191035
Variant Present in the following documents:
  • Main text
View BVdb publication page