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