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EGR1 c.673_674delinsCG ;(p.F225R)
Variant ID: 5-137802811-TT-CG
NM_001964.2(
EGR1
):c.673_674delinsCG;(p.F225R)
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:
Mutation of exposed hydrophobic amino acids to arginine to increase protein stability.
Bmc Biochemistry
Strub, Caroline C; Alies, Carole C; Lougarre, Andrée A; Ladurantie, Caroline C; Czaplicki, Jerzy J; Fournier, Didier D
Publication Date: 2004-07-13
Variant appearance in text: 225: F225R
PubMed Link:
15251041
Variant Present in the following documents:
Main text
1471-2091-5-9.pdf
View BVdb publication page