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EGR1 c.1099C>G ;(p.P367A)
Variant ID: 5-137803237-C-G
NM_001964.2(
EGR1
):c.1099C>G;(p.P367A)
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:
A proline-rich motif in the large intracellular loop of the glycine receptor α1 subunit interacts with the Pleckstrin homology domain of collybistin.
Journal Of Advanced Research
Breitinger, Ulrike U; Weinländer, Kristina K; Pechmann, Yvonne Y; Langlhofer, Georg G; Enz, Ralf R; Becker, Cord-Michael CM; Sticht, Heinrich H; Kneussel, Matthias M; Villmann, Carmen C; Breitinger, Hans-Georg HG
Publication Date: 2021-03
Variant appearance in text: 225: P367A
PubMed Link:
33842008
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Integrated genomic and metabolomic profiling of ISC1, an emerging Leishmania donovani population in the Indian subcontinent.
Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases
Cuypers, Bart B; Berg, Maya M; Imamura, Hideo H; Dumetz, Franck F; De Muylder, Géraldine G; Domagalska, Malgorzata A MA; Rijal, Suman S; Bhattarai, Narayan Raj NR; Maes, Ilse I; Sanders, Mandy M; Cotton, James A JA; Meysman, Pieter P; Laukens, Kris K; Dujardin, Jean-Claude JC
Publication Date: 2018-08
Variant appearance in text: 225: 1099C>G
PubMed Link:
29679745
Variant Present in the following documents:
mmc3.xlsx, sheet 1
View BVdb publication page