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EGR1 c.676_678delinsTAT ;(p.P226Y)
Variant ID: 5-137802814-CCG-TAT
NM_001964.2(
EGR1
):c.676_678delinsTAT;(p.P226Y)
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:
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: P226Y
PubMed Link:
34967936
Variant Present in the following documents:
439_2021_2411_MOESM3_ESM.xlsx, sheet 20
View BVdb publication page