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SI c.868A>G ;(p.K290E)
Variant ID: 3-164781269-T-C
NM_001041.3(
SI
):c.868A>G;(p.K290E)
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:
Conformational properties of the disease-causing Z variant of α1-antitrypsin revealed by theory and experiment.
Biophysical Journal
Kass, Itamar I; Knaupp, Anja S AS; Bottomley, Stephen P SP; Buckle, Ashley M AM
Publication Date: 2012-06-20
Variant appearance in text: SI: K290E
PubMed Link:
22735536
Variant Present in the following documents:
Main text
View BVdb publication page
Aglycosylated immunoglobulin G1 variants productively engage activating Fc receptors.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Sazinsky, Stephen L SL; Ott, René G RG; Silver, Nathaniel W NW; Tidor, Bruce B; Ravetch, Jeffrey V JV; Wittrup, K Dane KD
Publication Date: 2008-12-23
Variant appearance in text: SI: K290E
PubMed Link:
19074274
Variant Present in the following documents:
Main text
View BVdb publication page
Molecular basis for the autoregulation of the protein acetyl transferase Rtt109.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Stavropoulos, Pete P; Nagy, Vivien V; Blobel, Günter G; Hoelz, André A
Publication Date: 2008-08-26
Variant appearance in text: SI: K290E
PubMed Link:
18719104
Variant Present in the following documents:
Main text
View BVdb publication page