CFTR c.2695_2697delinsTGT ;(p.R899C)

Variant ID: 7-117243623-AGA-TGT

NM_000492.3(CFTR):c.2695_2697delinsTGT;(p.R899C)

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: R899C
PubMed Link: 25024266
Variant Present in the following documents:
  • Main text
  • supp_jgp.201311122_JGP_201311122_sm.pdf
  • JGP_201311122.pdf
View BVdb publication page