CFTR c.329A>C ;(p.D110A)

Variant ID: 7-117171008-A-C

NM_000492.3(CFTR):c.329A>C;(p.D110A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Single-nucleotide polymorphisms in Orai1 associated with atopic dermatitis inhibit protein turnover, decrease calcium entry and disrupt calcium-dependent gene expression.

Human Molecular Genetics
Yeh, Yi-Chun YC; Lin, Yu-Ping YP; Kramer, Holger H; Parekh, Anant B AB
Publication Date: 2020-07-21

Variant appearance in text: CFTR: D110A
PubMed Link: 31600783
Variant Present in the following documents:
  • Main text
  • ddz223.pdf
View BVdb publication page



Positioning of extracellular loop 1 affects pore gating of the cystic fibrosis transmembrane conductance regulator.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Infield, Daniel T DT; Cui, Guiying G; Kuang, Christopher C; McCarty, Nael A NA
Publication Date: 2016-03-01

Variant appearance in text: CFTR: D110A
PubMed Link: 26684250
Variant Present in the following documents:
  • Main text
View BVdb publication page