CFTR c.1426_1428delinsTGT ;(p.E476C)

Variant ID: 7-117199551-GAG-TGT

NM_000492.3(CFTR):c.1426_1428delinsTGT;(p.E476C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Attenuation of Phosphorylation-dependent Activation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) by Disease-causing Mutations at the Transmission Interface.

The Journal Of Biological Chemistry
Chin, Stephanie S; Yang, Donghe D; Miles, Andrew J AJ; Eckford, Paul D W PDW; Molinski, Steven S; Wallace, B A BA; Bear, Christine E CE
Publication Date: 2017-02-03

Variant appearance in text: CFTR: E476C
PubMed Link: 28003367
Variant Present in the following documents:
  • Main text
  • zbc1988.pdf
View BVdb publication page