EGR1 c.508_509delinsAA ;(p.S170N)

Variant ID: 5-137802646-TC-AA

NM_001964.2(EGR1):c.508_509delinsAA;(p.S170N)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: 225: S170N
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



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: S170N
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: 225: S170N
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Asparagine and glutamine ladders promote cross-species prion conversion.

The Journal Of Biological Chemistry
Kurt, Timothy D TD; Aguilar-Calvo, Patricia P; Jiang, Lin L; Rodriguez, José A JA; Alderson, Nazilla N; Eisenberg, David S DS; Sigurdson, Christina J CJ
Publication Date: 2017-11-17

Variant appearance in text: 225: S170N
PubMed Link: 28931606
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying critical sites of PrP(c)-PrP(Sc) interaction in prion-infected cells by dominant-negative inhibition.

Prion
Taguchi, Yuzuru Y; Schätzl, Hermann M HM
Publication Date: 2013

Variant appearance in text: 225: S170N
PubMed Link: 24401595
Variant Present in the following documents:
  • Main text
  • prio-7-452.pdf
View BVdb publication page



Chronic wasting disease.

Biochimica Et Biophysica Acta
Sigurdson, Christina J CJ; Aguzzi, Adriano A
Publication Date: 2007-06

Variant appearance in text: 225: S170N
PubMed Link: 17223321
Variant Present in the following documents:
  • Main text
View BVdb publication page