CFTR c.1045_1046delinsAA ;(p.A349K)

Variant ID: 7-117180329-GC-AA

NM_000492.3(CFTR):c.1045_1046delinsAA;(p.A349K)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Cystic fibrosis transmembrane conductance regulator chloride channel blockers: Pharmacological, biophysical and physiological relevance.

World Journal Of Biological Chemistry
Linsdell, Paul P
Publication Date: 2014-02-26

Variant appearance in text: CFTR: A349K
PubMed Link: 24600512
Variant Present in the following documents:
  • Main text
View BVdb publication page


Tuning of CFTR chloride channel function by location of positive charges within the pore.

Biophysical Journal
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-10-17

Variant appearance in text: CFTR: A349K
PubMed Link: 23083715
Variant Present in the following documents:
  • Main text
View BVdb publication page