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CFTR c.2860_2861delinsGC ;(p.H954A)
Variant ID: 7-117243788-CA-GC
NM_000492.3(
CFTR
):c.2860_2861delinsGC;(p.H954A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
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dbSNP
Publications:
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: H954A
PubMed Link:
21059651
Variant Present in the following documents:
Main text
View BVdb publication page
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: H954A
PubMed Link:
20952391
Variant Present in the following documents:
Main text
View BVdb publication page