CFTR c.1654_1655delinsGC ;(p.Q552A)

Variant ID: 7-117227862-CA-GC

NM_000492.3(CFTR):c.1654_1655delinsGC;(p.Q552A)

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:

On the mechanism of MgATP-dependent gating of CFTR Cl- channels.

The Journal Of General Physiology
Vergani, Paola P; Nairn, Angus C AC; Gadsby, David C DC
Publication Date: 2003-01

Variant appearance in text: CFTR: Q552A
PubMed Link: 12508051
Variant Present in the following documents:
  • Main text
  • 20028673.pdf
View BVdb publication page