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EGR1 c.691_693delinsTTT ;(p.T231F)
Variant ID: 5-137802829-ACA-TTT
NM_001964.2(
EGR1
):c.691_693delinsTTT;(p.T231F)
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:
Embeddings from protein language models predict conservation and variant effects.
Human Genetics
Marquet, CĂ©line C; Heinzinger, Michael M; Olenyi, Tobias T; Dallago, Christian C; Erckert, Kyra K; Bernhofer, Michael M; Nechaev, Dmitrii D; Rost, Burkhard B
Publication Date: 2022-10
Variant appearance in text: 225: T231F
PubMed Link:
34967936
Variant Present in the following documents:
439_2021_2411_MOESM3_ESM.xlsx, sheet 34
View BVdb publication page
Super-resolution imaging reveals that AMPA receptors inside synapses are dynamically organized in nanodomains regulated by PSD95.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Nair, Deepak D; Hosy, Eric E; Petersen, Jennifer D JD; Constals, Audrey A; Giannone, Gregory G; Choquet, Daniel D; Sibarita, Jean-Baptiste JB
Publication Date: 2013-08-07
Variant appearance in text: 225: T231F
PubMed Link:
23926273
Variant Present in the following documents:
Main text
View BVdb publication page