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PCSK7 c.2140_2141delinsGC ;(p.K714A)
Variant ID: 11-117076930-TT-GC
NM_004716.2(
PCSK7
):c.2140_2141delinsGC;(p.K714A)
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:
Internalization of proprotein convertase PC7 from plasma membrane is mediated by a novel motif.
The Journal Of Biological Chemistry
Declercq, Jeroen J; Meulemans, Sandra S; Plets, Evelyn E; Creemers, John W M JW
Publication Date: 2012-03-16
Variant appearance in text: PC7: K714A
PubMed Link:
22294700
Variant Present in the following documents:
Main text
View BVdb publication page