EGR1 c.285G>C ;(p.Q95H)

Variant ID: 5-137801735-G-C

NM_001964.2(EGR1):c.285G>C;(p.Q95H)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: 225: Gln95His
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing.

Frontiers In Molecular Biosciences
Oliveira Netto, Alice Brinckmann AB; Brusius-Facchin, Ana Carolina AC; Leistner-Segal, Sandra S; Kubaski, Francyne F; Josahkian, Juliana J; Giugliani, Roberto R
Publication Date: 2021

Variant appearance in text: 225: 285G>C
PubMed Link: 34805285
Variant Present in the following documents:
  • fmolb-08-789350.pdf
View BVdb publication page



Review on PRNP genetics and susceptibility to chronic wasting disease of Cervidae.

Veterinary Research
Moazami-Goudarzi, Katayoun K; Andréoletti, Olivier O; Vilotte, Jean-Luc JL; Béringue, Vincent V
Publication Date: 2021-10-07

Variant appearance in text: 225: Q95H
PubMed Link: 34620247
Variant Present in the following documents:
  • Main text
  • 13567_2021_Article_993.pdf
View BVdb publication page



Association of chronic wasting disease susceptibility with prion protein variation in white-tailed deer (Odocoileus virginianus).

Prion
Ishida, Yasuko Y; Tian, Ting T; Brandt, Adam L AL; Kelly, Amy C AC; Shelton, Paul P; Roca, Alfred L AL; Novakofski, Jan J; Mateus-Pinilla, Nohra E NE
Publication Date: 2020-12

Variant appearance in text: 225: Gln95His
PubMed Link: 32835598
Variant Present in the following documents:
  • KPRN_14_1805288.pdf
View BVdb publication page



Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science
Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R
Publication Date: 2019

Variant appearance in text: 225: 285G>C
PubMed Link: 31708937
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
View BVdb publication page



Are Brazilian cervids at risk of prion diseases?

Prion
Falcão, Caio Bruno Ribeiro CB; Lima, Isabel Luiza de Melo Nunes Freire IL; Duarte, José Maurício Barbanti JM; de Oliveira, João Ricardo Mendes JR; Torres, Rodrigo Augusto RA; Wanderley, Artur Maia AM; Gomes da Cunha, José Eriton JE; Garcia, José Eduardo JE
Publication Date: 2017-01-02

Variant appearance in text: 225: Q95H
PubMed Link: 28281927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: 225: 285G>C
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Prion protein misfolding, strains, and neurotoxicity: an update from studies on Mammalian prions.

International Journal Of Cell Biology
Poggiolini, Ilaria I; Saverioni, Daniela D; Parchi, Piero P
Publication Date: 2013

Variant appearance in text: 225: Q95H
PubMed Link: 24454379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms and variants in the prion protein sequence of European moose (Alces alces), reindeer (Rangifer tarandus), roe deer (Capreolus capreolus) and fallow deer (Dama dama) in Scandinavia.

Prion
Wik, Lotta L; Mikko, Sofia S; Klingeborn, Mikael M; Stéen, Margareta M; Simonsson, Magnus M; Linné, Tommy T
Publication Date: 2012-07-01

Variant appearance in text: 225: Q95H
PubMed Link: 22441661
Variant Present in the following documents:
  • Main text
View BVdb publication page



A wide extent of inter-strain diversity in virulent and vaccine strains of alphaherpesviruses.

Plos Pathogens
Szpara, Moriah L ML; Tafuri, Yolanda R YR; Parsons, Lance L; Shamim, S Rafi SR; Verstrepen, Kevin J KJ; Legendre, Matthieu M; Enquist, L W LW
Publication Date: 2011-10

Variant appearance in text: 225: Q95H
PubMed Link: 22022263
Variant Present in the following documents:
  • ppat.1002282.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: Q95H
PubMed Link: 17223321
Variant Present in the following documents:
  • Main text
View BVdb publication page