CFTR c.535_536delinsGC ;(p.Q179A)

Variant ID: 7-117174375-CA-GC

NM_000492.3(CFTR):c.535_536delinsGC;(p.Q179A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Cooperative endocytosis of the endosomal SNARE protein syntaxin-8 and the potassium channel TASK-1.

Molecular Biology Of The Cell
Renigunta, Vijay V; Fischer, Thomas T; Zuzarte, Marylou M; Kling, Stefan S; Zou, Xinle X; Siebert, Kai K; Limberg, Maren M MM; Rinné, Susanne S; Decher, Niels N; Schlichthörl, Günter G; Daut, Jürgen J
Publication Date: 2014-06-15

Variant appearance in text: CFTR: Q179A
PubMed Link: 24743596
Variant Present in the following documents:
  • Main text
  • 1877.pdf
View BVdb publication page