CFTR c.164G>A ;(p.R55K)

Variant ID: 7-117144417-G-A

NM_000492.3(CFTR):c.164G>A;(p.R55K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience
Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA
Publication Date: 2022-01-21

Variant appearance in text: CFTR: 164G>A; Arg55Lys
PubMed Link: 35072004
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



NMR evidence for differential phosphorylation-dependent interactions in WT and DeltaF508 CFTR.

The Embo Journal
Kanelis, Voula V; Hudson, Rhea P RP; Thibodeau, Patrick H PH; Thomas, Philip J PJ; Forman-Kay, Julie D JD
Publication Date: 2010-01-06

Variant appearance in text: CFTR: R55K
PubMed Link: 19927121
Variant Present in the following documents:
  • Main text
View BVdb publication page