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CYBB c.433G>A ;(p.G145R)
Variant ID: X-37653013-G-A
NM_000397.3(
CYBB
):c.433G>A;(p.G145R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structure of the core human NADPH oxidase NOX2.
Nature Communications
Noreng, Sigrid S; Ota, Naruhisa N; Sun, Yonglian Y; Ho, Hoangdung H; Johnson, Matthew M; Arthur, Christopher P CP; Schneider, Kellen K; Lehoux, Isabelle I; Davies, Christopher W CW; Mortara, Kyle K; Wong, Kit K; Seshasayee, Dhaya D; Masureel, Matthieu M; Payandeh, Jian J; Yi, Tangsheng T; Koerber, James T JT
Publication Date: 2022-10-14
Variant appearance in text: NOX2: Gly145Arg
PubMed Link:
36241643
Variant Present in the following documents:
41467_2022_33711_MOESM1_ESM.pdf
View BVdb publication page
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04
Variant appearance in text: CYBB: Gly145Arg
PubMed Link:
35246273
Variant Present in the following documents:
40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page