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.




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