EGR1 c.305_306delinsAC ;(p.A102D)

Variant ID: 5-137801755-CA-AC

NM_001964.2(EGR1):c.305_306delinsAC;(p.A102D)

This variant was identified in 4 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: A102D
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



How Genes Modulate Patterns of Aging-Related Changes on the Way to 100: Biodemographic Models and Methods in Genetic Analyses of Longitudinal Data.

North American Actuarial Journal : Naaj
Yashin, Anatoliy I AI; Arbeev, Konstantin G KG; Wu, Deqing D; Arbeeva, Liubov L; Kulminski, Alexander A; Kulminskaya, Irina I; Akushevich, Igor I; Ukraintseva, Svetlana V SV
Publication Date: 2016

Variant appearance in text: 225: A102D
PubMed Link: 27773987
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell
Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R
Publication Date: 2015-09-24

Variant appearance in text: 225: A102D
PubMed Link: 26388441
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing targets drug-resistant bacterial infections.

Human Genomics
Punina, N V NV; Makridakis, N M NM; Remnev, M A MA; Topunov, A F AF
Publication Date: 2015-08-05

Variant appearance in text: 225: A102D
PubMed Link: 26243131
Variant Present in the following documents:
  • Main text
  • 40246_2015_Article_37.pdf
View BVdb publication page