CFTR c.799_801delinsTGT ;(p.E267C)

Variant ID: 7-117176657-GAA-TGT

NM_000492.3(CFTR):c.799_801delinsTGT;(p.E267C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


An electrostatic interaction at the tetrahelix bundle promotes phosphorylation-dependent cystic fibrosis transmembrane conductance regulator (CFTR) channel opening.

The Journal Of Biological Chemistry
Wang, Wei W; Roessler, Bryan C BC; Kirk, Kevin L KL
Publication Date: 2014-10-31

Variant appearance in text: CFTR: E267C
PubMed Link: 25190805
Variant Present in the following documents:
  • Main text
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