EGR1 c.315dup ;(p.P106Sfs*2)

Variant ID: 5-137802449-C-CT

NM_001964.2(EGR1):c.315dup;(p.P106Sfs*2)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Human Mutation
Chiorean, Andreea A; Farncombe, Kirsten M KM; Delong, Sean S; Andric, Veronica V; Ansar, Safa S; Chan, Clarissa C; Clark, Kaitlin K; Danos, Arpad M AM; Gao, Yizhuo Y; Giles, Rachel H RH; Goldenberg, Anna A; Jani, Payal P; Krysiak, Kilannin K; Kujan, Lynzey L; Macpherson, Samantha S; Maher, Eamonn R ER; McCoy, Liam G LG; Salama, Yasser Y; Saliba, Jason J; Sheta, Lana L; Griffith, Malachi M; Griffith, Obi L OL; Erdman, Lauren L; Ramani, Arun A; Kim, Raymond H RH
Publication Date: 2022-09

Variant appearance in text: 225: 314dup
PubMed Link: 35475554
Variant Present in the following documents:
  • HUMU-43-1268-s002.xlsx, sheet 1
View BVdb publication page



Multi-omics data integration reveals novel drug targets in hepatocellular carcinoma.

Bmc Genomics
Dimitrakopoulos, Christos C; Hindupur, Sravanth Kumar SK; Colombi, Marco M; Liko, Dritan D; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S; Behr, Jonas J; Moore, Ariane L AL; Singer, Jochen J; Ruscheweyh, Hans-Joachim HJ; Matter, Matthias S MS; Mossmann, Dirk D; Terracciano, Luigi M LM; Hall, Michael N MN; Beerenwinkel, Niko N
Publication Date: 2021-08-04

Variant appearance in text: 225: 313dupT
PubMed Link: 34348664
Variant Present in the following documents:
  • Main text
  • 12864_2021_Article_7876.pdf
View BVdb publication page