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CFTR c.2302_2303delinsCG ;(p.S768R)
Variant ID: 7-117232523-TC-CG
NM_000492.3(
CFTR
):c.2302_2303delinsCG;(p.S768R)
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:
In silico analysis on the functional and structural impact of Rad50 mutations involved in DNA strand break repair.
Peerj
Remali, Juwairiah J; Aizat, Wan Mohd WM; Ng, Chyan Leong CL; Lim, Yi Chieh YC; Mohamed-Hussein, Zeti-Azura ZA; Fazry, Shazrul S
Publication Date: 2020
Variant appearance in text: CFTR: S768R
PubMed Link:
32509463
Variant Present in the following documents:
Main text
peerj-08-9197.pdf
View BVdb publication page
The inhibition mechanism of non-phosphorylated Ser768 in the regulatory domain of cystic fibrosis transmembrane conductance regulator.
The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2011-01-21
Variant appearance in text: CFTR: S768R
PubMed Link:
21059651
Variant Present in the following documents:
Main text
View BVdb publication page