CFTR c.340_342delinsGAC ;(p.K114D)

Variant ID: 7-117171019-AAG-GAC

NM_000492.3(CFTR):c.340_342delinsGAC;(p.K114D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR.

The Journal Of General Physiology
Cui, Guiying G; Rahman, Kazi S KS; Infield, Daniel T DT; Kuang, Christopher C; Prince, Chengyu Z CZ; McCarty, Nael A NA
Publication Date: 2014-08

Variant appearance in text: CFTR: K114D
PubMed Link: 25024266
Variant Present in the following documents:
  • Main text
  • JGP_201311122.pdf
View BVdb publication page