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MAVS c.-68+2117G>A
Variant ID: 20-3829667-G-A
NM_020746.5(
MAVS
):c.-68+2117G>A
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:
Genetic variation in TLR or NFkappaB pathways and the risk of breast cancer: a case-control study.
Bmc Cancer
Resler, Alexa J AJ; Malone, Kathleen E KE; Johnson, Lisa G LG; Malkki, Mari M; Petersdorf, Effie W EW; McKnight, Barbara B; Madeleine, Margaret M MM
Publication Date: 2013-05-01
Variant appearance in text: rs6116065
PubMed Link:
23634849
Variant Present in the following documents:
View BVdb publication page
A loss-of-function variant of the antiviral molecule MAVS is associated with a subset of systemic lupus patients.
Embo Molecular Medicine
Pothlichet, Julien J; Niewold, Timothy B TB; Vitour, Damien D; Solhonne, Brigitte B; Crow, Mary K MK; Si-Tahar, Mustapha M
Publication Date: 2011-03
Variant appearance in text: rs6116065
PubMed Link:
21268286
Variant Present in the following documents:
Main text
emmm0003-0142.pdf
emmm0003-0142-SD1.pdf
View BVdb publication page