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PCSK9 c.1147_1148delinsGC ;(p.S383A)
Variant ID: 1-55523154-AG-GC
NM_174936.3(
PCSK9
):c.1147_1148delinsGC;(p.S383A)
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:
Ndm, a coiled-coil domain protein that suppresses macropinocytosis and has effects on cell migration.
Molecular Biology Of The Cell
Kelsey, Jessica S JS; Fastman, Nathan M NM; Noratel, Elizabeth F EF; Blumberg, Daphne D DD
Publication Date: 2012-09
Variant appearance in text: FH3: S383A
PubMed Link:
22809629
Variant Present in the following documents:
Main text
3407.pdf
View BVdb publication page