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CYBB c.1456_1458delinsGAG ;(p.S486E)
Variant ID: X-37665781-TCT-GAG
NM_000397.3(
CYBB
):c.1456_1458delinsGAG;(p.S486E)
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:
Down-regulation of NOX2 activity in phagocytes mediated by ATM-kinase dependent phosphorylation.
Free Radical Biology & Medicine
Beaumel, Sylvain S; Picciocchi, Antoine A; Debeurme, Franck F; Vivès, Corinne C; Hesse, Anne-Marie AM; Ferro, Myriam M; Grunwald, Didier D; Stieglitz, Heather H; Thepchatri, Pahk P; Smith, Susan M E SME; Fieschi, Franck F; Stasia, Marie José MJ
Publication Date: 2017-12
Variant appearance in text: NOX2: Ser486Glu
PubMed Link:
28916473
Variant Present in the following documents:
Main text
View BVdb publication page