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SI c.854A>C ;(p.E285A)
Variant ID: 3-164781283-T-G
NM_001041.3(
SI
):c.854A>C;(p.E285A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
STING is a direct innate immune sensor of cyclic di-GMP.
Nature
Burdette, Dara L DL; Monroe, Kathryn M KM; Sotelo-Troha, Katia K; Iwig, Jeff S JS; Eckert, Barbara B; Hyodo, Mamoru M; Hayakawa, Yoshihiro Y; Vance, Russell E RE
Publication Date: 2011-09-25
Variant appearance in text: SI: E285A
PubMed Link:
21947006
Variant Present in the following documents:
NIHMS316132-supplement-3.pdf
View BVdb publication page
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
Journal Of Inherited Metabolic Disease
Krijt, Jakub J; Kopecká, Jana J; Hnízda, Aleš A; Moat, Stuart S; Kluijtmans, Leo A J LA; Mayne, Philip P; Kožich, Viktor V
Publication Date: 2011-02
Variant appearance in text: SI: E285A
PubMed Link:
20821054
Variant Present in the following documents:
10545_2011_Article_9371.pdf
View BVdb publication page
CryoEM structure of Hsp104 and its mechanistic implication for protein disaggregation.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Lee, Sukyeong S; Sielaff, Bernhard B; Lee, Jungsoon J; Tsai, Francis T F FT
Publication Date: 2010-05-04
Variant appearance in text: SI: E285A
PubMed Link:
20404203
Variant Present in the following documents:
Main text
View BVdb publication page