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EGR1 c.835_836delinsGC ;(p.S279A)
Variant ID: 5-137802973-AG-GC
NM_001964.2(
EGR1
):c.835_836delinsGC;(p.S279A)
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:
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.
The Journal Of Clinical Investigation
Li, Chengcheng C; Wilborn, Jackson J; Pittman, Sara S; Daw, Jil J; Alonso-Pérez, Jorge J; Díaz-Manera, Jordi J; Weihl, Conrad C CC; Haller, Gabe G
Publication Date: 2023-06-15
Variant appearance in text: 225: S279A
PubMed Link:
37317968
Variant Present in the following documents:
jci-133-168156-s148.xlsx, sheet 2
View BVdb publication page
Mutations in two putative phosphorylation motifs in the tomato pollen receptor kinase LePRK2 show antagonistic effects on pollen tube length.
The Journal Of Biological Chemistry
Salem, Tamara T; Mazzella, Agustina A; Barberini, María Laura ML; Wengier, Diego D; Motillo, Viviana V; Parisi, Gustavo G; Muschietti, Jorge J
Publication Date: 2011-02-11
Variant appearance in text: 225: S279A
PubMed Link:
21131355
Variant Present in the following documents:
Main text
View BVdb publication page