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TLR4 c.1723_1725delinsCAA ;(p.N575Q)
Variant ID: 9-120476129-AAT-CAA
NM_138554.4(
TLR4
):c.1723_1725delinsCAA;(p.N575Q)
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:
MD-2 is necessary for the toll-like receptor 4 protein to undergo glycosylation essential for its translocation to the cell surface.
Clinical And Diagnostic Laboratory Immunology
Ohnishi, Takahiro T; Muroi, Masashi M; Tanamoto, Ken-Ichi K
Publication Date: 2003-05
Variant appearance in text: TLR4: N575Q
PubMed Link:
12738639
Variant Present in the following documents:
Main text
View BVdb publication page