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CFTR c.2848C>G ;(p.H950D)
Variant ID: 7-117243776-C-G
NM_000492.3(
CFTR
):c.2848C>G;(p.H950D)
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
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dbSNP
Publications:
Regulation of activation and processing of the cystic fibrosis transmembrane conductance regulator (CFTR) by a complex electrostatic interaction between the regulatory domain and cytoplasmic loop 3.
The Journal Of Biological Chemistry
Wang, Guangyu G; Duan, Dayue Darrel DD
Publication Date: 2012-11-23
Variant appearance in text: CFTR: H950D
PubMed Link:
23060444
Variant Present in the following documents:
Main text
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: H950D
PubMed Link:
21059651
Variant Present in the following documents:
Main text
View BVdb publication page