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CFTR c.3202_3204delinsATG ;(p.F1068M)
Variant ID: 7-117251697-TTC-ATG
NM_000492.3(
CFTR
):c.3202_3204delinsATG;(p.F1068M)
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:
Can two wrongs make a right? F508del-CFTR ion channel rescue by second-site mutations in its transmembrane domains.
The Journal Of Biological Chemistry
Prins, Stella S; Corradi, Valentina V; Sheppard, David N DN; Tieleman, D Peter DP; Vergani, Paola P
Publication Date: 2022-03
Variant appearance in text: CFTR: F1068M
PubMed Link:
35065958
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Relationship between nucleotide binding and ion channel gating in cystic fibrosis transmembrane conductance regulator.
The Journal Of Physiology
Aleksandrov, Andrei A AA; Cui, Liying L; Riordan, John R JR
Publication Date: 2009-06-15
Variant appearance in text: CFTR: F1068M
PubMed Link:
19403599
Variant Present in the following documents:
Main text
View BVdb publication page