EGR1 c.518C>G ;(p.S173*)

Variant ID: 5-137802656-C-G

NM_001964.2(EGR1):c.518C>G;(p.S173*)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


CLK1/CLK2-driven signalling at the Leishmania kinetochore is captured by spatially referenced proximity phosphoproteomics.

Communications Biology
Geoghegan, Vincent V; Carnielli, Juliana B T JBT; Jones, Nathaniel G NG; Saldivia, Manuel M; Antoniou, Sergios S; Hughes, Charlotte C; Neish, Rachel R; Dowle, Adam A; Mottram, Jeremy C JC
Publication Date: 2022-11-28

Variant appearance in text: 225: S173*
PubMed Link: 36437406
Variant Present in the following documents:
  • 42003_2022_4280_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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: 518C>G
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Bromodomain factor 5 is an essential regulator of transcription in Leishmania.

Nature Communications
Jones, Nathaniel G NG; Geoghegan, Vincent V; Moore, Gareth G; Carnielli, Juliana B T JBT; Newling, Katherine K; Calderón, Félix F; Gabarró, Raquel R; Martín, Julio J; Prinjha, Rab K RK; Rioja, Inmaculada I; Wilkinson, Anthony J AJ; Mottram, Jeremy C JC
Publication Date: 2022-07-13

Variant appearance in text: 225: S173*
PubMed Link: 35831302
Variant Present in the following documents:
  • 41467_2022_31742_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



In-depth phenotyping for clinical stratification of Gaucher disease.

Orphanet Journal Of Rare Diseases
D'Amore, Simona S; Page, Kathleen K; Donald, Aimée A; Taiyari, Khadijeh K; Tom, Brian B; Deegan, Patrick P; Tan, Chong Y CY; Poole, Kenneth K; Jones, Simon A SA; Mehta, Atul A; Hughes, Derralynn D; Sharma, Reena R; Lachmann, Robin H RH; Chakrapani, Anupam A; Geberhiwot, Tarekegn T; Santra, Saikat S; Banka, Siddarth S; Cox, Timothy M TM; ,
Publication Date: 2021-10-14

Variant appearance in text: 225: S173X
PubMed Link: 34649574
Variant Present in the following documents:
  • 13023_2021_2034_MOESM1_ESM.pdf
View BVdb publication page



The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology
Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A
Publication Date: 2021-02-05

Variant appearance in text: 225: 518C>G
PubMed Link: 33546694
Variant Present in the following documents:
  • 12915_2021_962_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Impact of extracellular matrix stiffness on genomic heterogeneity in MYCN-amplified neuroblastoma cell line.

Journal Of Experimental & Clinical Cancer Research : Cr
López-Carrasco, Amparo A; Martín-Vañó, Susana S; Burgos-Panadero, Rebeca R; Monferrer, Ezequiel E; Berbegall, Ana P AP; Fernández-Blanco, Beatriz B; Navarro, Samuel S; Noguera, Rosa R
Publication Date: 2020-10-28

Variant appearance in text: 225: 518C>G
PubMed Link: 33109237
Variant Present in the following documents:
  • 13046_2020_1729_MOESM3_ESM.xlsx, sheet 2
  • 13046_2020_1729_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology
Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D
Publication Date: 2019-01-15

Variant appearance in text: 225: 518C>G
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.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: 518C>G
PubMed Link: 29679745
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: 518C>G
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page