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PCSK7 c.691_692delinsGC ;(p.R231A)
Variant ID: 11-117097950-CG-GC
NM_004716.2(
PCSK7
):c.691_692delinsGC;(p.R231A)
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:
WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy.
Nature Communications
Bakula, Daniela D; Müller, Amelie J AJ; Zuleger, Theresia T; Takacs, Zsuzsanna Z; Franz-Wachtel, Mirita M; Thost, Ann-Katrin AK; Brigger, Daniel D; Tschan, Mario P MP; Frickey, Tancred T; Robenek, Horst H; Macek, Boris B; Proikas-Cezanne, Tassula T
Publication Date: 2017-05-31
Variant appearance in text: LPC: R231A
PubMed Link:
28561066
Variant Present in the following documents:
ncomms15637-s1.pdf
View BVdb publication page