CFTR c.1030_1031delinsGC ;(p.I344A)

Variant ID: 7-117180314-AT-GC

NM_000492.3(CFTR):c.1030_1031delinsGC;(p.I344A)

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:

Molecular determinants of Au(CN)(2)(-) binding and permeability within the cystic fibrosis transmembrane conductance regulator Cl(-) channel pore.

The Journal Of Physiology
Gong, Xiandi X; Burbridge, Susan M SM; Cowley, Elizabeth A EA; Linsdell, Paul P
Publication Date: 2002-04-01

Variant appearance in text: CFTR: I344A
PubMed Link: 11927667
Variant Present in the following documents:
  • Main text
View BVdb publication page