EGR1 c.1259G>A ;(p.R420Q)

Variant ID: 5-137803397-G-A

NM_001964.2(EGR1):c.1259G>A;(p.R420Q)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: 225: 1259G>A
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Phenethylamine is a substrate of monoamine oxidase B in the paraventricular thalamic nucleus.

Scientific Reports
Obata, Youhei Y; Kubota-Sakashita, Mie M; Kasahara, Takaoki T; Mizuno, Masafumi M; Nemoto, Takahiro T; Kato, Tadafumi T
Publication Date: 2022-01-07

Variant appearance in text: 225: 1259G>A
PubMed Link: 34996979
Variant Present in the following documents:
  • 41598_2021_3885_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Whole-exome sequencing in clear cell sarcoma of soft tissue uncovers novel prognostic categorization and drug targets.

Clinical And Translational Medicine
Li, Jingjing J; Chen, Chao C; Liu, Wei W; Liu, Songming S; Hu, Wanming W; Gao, Xiaoyan X; Liu, Geng G; Li, Dandan D; Ding, Ya Y; Wen, Xizhi X; Zhang, Xiuqing X; Hou, Yong Y; Zhang, Xing X; Li, Bo B; Zhang, Xiaoshi X; Zhang, Xi X
Publication Date: 2021-12

Variant appearance in text: 225: R420Q
PubMed Link: 34923763
Variant Present in the following documents:
  • CTM2-11-e640-s002.xlsx, sheet 1
View BVdb publication page



Integrated genomic and metabolomic profiling of ISC1, an emerging Leishmania donovani population in the Indian subcontinent.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases
Cuypers, Bart B; Berg, Maya M; Imamura, Hideo H; Dumetz, Franck F; De Muylder, Géraldine G; Domagalska, Malgorzata A MA; Rijal, Suman S; Bhattarai, Narayan Raj NR; Maes, Ilse I; Sanders, Mandy M; Cotton, James A JA; Meysman, Pieter P; Laukens, Kris K; Dujardin, Jean-Claude JC
Publication Date: 2018-08

Variant appearance in text: 225: 1259G>A
PubMed Link: 29679745
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



The N-Terminal Region of the Ryanodine Receptor Affects Channel Activation.

Frontiers In Physiology
Faltinova, Andrea A; Tomaskova, Nataša N; Antalik, Marián M; Sevcik, Jozef J; Zahradnikova, Alexandra A
Publication Date: 2017

Variant appearance in text: 225: R420Q
PubMed Link: 28713282
Variant Present in the following documents:
  • Main text
  • fphys-08-00443.pdf
View BVdb publication page