CFTR c.2836_2838delinsTGT ;(p.K946C)

Variant ID: 7-117243764-AAA-TGT

NM_000492.3(CFTR):c.2836_2838delinsTGT;(p.K946C)

This variant was identified in 3 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Functional Architecture of the Cytoplasmic Entrance to the Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Pore.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2015-06-19

Variant appearance in text: CFTR: K946C
PubMed Link: 25944907
Variant Present in the following documents:
  • Main text
View BVdb publication page


Role of the juxtamembrane region of cytoplasmic loop 3 in the gating and conductance of the cystic fibrosis transmembrane conductance regulator chloride channel.

Biochemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-05-15

Variant appearance in text: CFTR: K946C
PubMed Link: 22545782
Variant Present in the following documents:
  • Main text
  • bi300065z.pdf
  • bi300065z_si_001.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: K946C
PubMed Link: 21059651
Variant Present in the following documents:
  • Main text
View BVdb publication page