EGR1 c.718_719delinsGC ;(p.Y240A)

Variant ID: 5-137802856-TA-GC

NM_001964.2(EGR1):c.718_719delinsGC;(p.Y240A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: 225: Y240A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



A bidentate Polycomb Repressive-Deubiquitinase complex is required for efficient activity on nucleosomes.

Nature Communications
Foglizzo, Martina M; Middleton, Adam J AJ; Burgess, Abigail E AE; Crowther, Jennifer M JM; Dobson, Renwick C J RCJ; Murphy, James M JM; Day, Catherine L CL; Mace, Peter D PD
Publication Date: 2018-09-26

Variant appearance in text: 225: Y240A
PubMed Link: 30258054
Variant Present in the following documents:
  • 41467_2018_6186_MOESM1_ESM.pdf
View BVdb publication page



Structural Characterization of Heme Environmental Mutants of CgHmuT that Shuttles Heme Molecules to Heme Transporters.

International Journal Of Molecular Sciences
Muraki, Norifumi N; Kitatsuji, Chihiro C; Ogura, Mariko M; Uchida, Takeshi T; Ishimori, Koichiro K; Aono, Shigetoshi S
Publication Date: 2016-05-27

Variant appearance in text: 225: Y240A
PubMed Link: 27240352
Variant Present in the following documents:
  • Main text
  • ijms-17-00829.pdf
View BVdb publication page