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

Variant ID: 5-137802656-C-A

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

This variant was identified in 5 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



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



North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science
Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA
Publication Date: 2020

Variant appearance in text: 225: 518C>A
PubMed Link: 33123180
Variant Present in the following documents:
  • Table_3.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>A
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.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>A
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page