CFTR c.1606A>C ;(p.K536Q)

Variant ID: 7-117227814-A-C

NM_000492.3(CFTR):c.1606A>C;(p.K536Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Folding and rescue of a cystic fibrosis transmembrane conductance regulator trafficking mutant identified using human-murine chimeric proteins.

The Journal Of Biological Chemistry
Da Paula, Ana Carina AC; Sousa, Marisa M; Xu, Zhe Z; Dawson, Elizabeth S ES; Boyd, A Christopher AC; Sheppard, David N DN; Amaral, Margarida D MD
Publication Date: 2010-08-27

Variant appearance in text: CFTR: K536Q
PubMed Link: 20551307
Variant Present in the following documents:
  • Main text
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