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CFTR c.2323_2324delinsAC ;(p.H775T)
Variant ID: 7-117232544-CA-AC
NM_000492.3(
CFTR
):c.2323_2324delinsAC;(p.H775T)
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:
State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.
The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2010-12-24
Variant appearance in text: CFTR: H775T
PubMed Link:
20952391
Variant Present in the following documents:
Main text
View BVdb publication page