CFTR c.916_918delinsGAG ;(p.N306E)

Variant ID: 7-117180200-AAT-GAG

NM_000492.3(CFTR):c.916_918delinsGAG;(p.N306E)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

CFTR gating: Invisible transitions made visible.

The Journal Of General Physiology
Csanády, László L
Publication Date: 2017-04-03

Variant appearance in text: CFTR: N306E
PubMed Link: 28264886
Variant Present in the following documents:
  • Main text
  • JGP_201711777.pdf
View BVdb publication page


Electrostatic tuning of the pre- and post-hydrolytic open states in CFTR.

The Journal Of General Physiology
Zhang, Jingyao J; Hwang, Tzyh-Chang TC
Publication Date: 2017-03-06

Variant appearance in text: CFTR: N306E
PubMed Link: 28242630
Variant Present in the following documents:
  • Main text
View BVdb publication page