EGR1 c.689G>C ;(p.G230A)

Variant ID: 5-137802827-G-C

NM_001964.2(EGR1):c.689G>C;(p.G230A)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Deep mutational scanning and massively parallel kinetics of plasminogen activator inhibitor-1 functional stability to probe its latency transition.

The Journal Of Biological Chemistry
Haynes, Laura M LM; Huttinger, Zachary M ZM; Yee, Andrew A; Kretz, Colin A CA; Siemieniak, David R DR; Lawrence, Daniel A DA; Ginsburg, David D
Publication Date: 2022-10-17

Variant appearance in text: 225: G230A
PubMed Link: 36257408
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



High-throughput mutagenesis identifies mutations and RNA-binding proteins controlling CD19 splicing and CART-19 therapy resistance.

Nature Communications
Cortés-López, Mariela M; Schulz, Laura L; Enculescu, Mihaela M; Paret, Claudia C; Spiekermann, Bea B; Quesnel-Vallières, Mathieu M; Torres-Diz, Manuel M; Unic, Sebastian S; Busch, Anke A; Orekhova, Anna A; Kuban, Monika M; Mesitov, Mikhail M; Mulorz, Miriam M MM; Shraim, Rawan R; Kielisch, Fridolin F; Faber, Jörg J; Barash, Yoseph Y; Thomas-Tikhonenko, Andrei A; Zarnack, Kathi K; Legewie, Stefan S; König, Julian J
Publication Date: 2022-09-22

Variant appearance in text: 225: G230A
PubMed Link: 36138008
Variant Present in the following documents:
  • 41467_2022_31818_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Embeddings from protein language models predict conservation and variant effects.

Human Genetics
Marquet, Céline C; Heinzinger, Michael M; Olenyi, Tobias T; Dallago, Christian C; Erckert, Kyra K; Bernhofer, Michael M; Nechaev, Dmitrii D; Rost, Burkhard B
Publication Date: 2022-10

Variant appearance in text: 225: G230A
PubMed Link: 34967936
Variant Present in the following documents:
  • 439_2021_2411_MOESM3_ESM.xlsx, sheet 27
  • 439_2021_2411_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances
Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, Chloé C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF
Publication Date: 2020

Variant appearance in text: 225: G230A
PubMed Link: 32904945
Variant Present in the following documents:
  • vdaa088_suppl_supplementary_tables.xlsx, sheet 2
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: 225: 689G>C
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_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: 689G>C
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: 689G>C
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: 689G>C
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Functional polymorphisms of the CCL2 and MBL genes cumulatively increase susceptibility to severe acute respiratory syndrome coronavirus infection.

The Journal Of Infection
Tu, Xinyi X; Chong, Wai Po WP; Zhai, Yun Y; Zhang, Hongxing H; Zhang, Fang F; Wang, Shixin S; Liu, Wei W; Wei, Maoti M; Siu, Nora Ho On NH; Yang, Hao H; Yang, Wanling W; Cao, Wuchun W; Lau, Yu Lung YL; He, Fuchu F; Zhou, Gangqiao G
Publication Date: 2015-07

Variant appearance in text: 225: G230A
PubMed Link: 25818534
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Allosteric regulation of serine protease HtrA2 through novel non-canonical substrate binding pocket.

Plos One
Bejugam, Pruthvi Raj PR; Kuppili, Raja R RR; Singh, Nitu N; Gadewal, Nikhil N; Chaganti, Lalith K LK; Sastry, G Madhavi GM; Bose, Kakoli K
Publication Date: 2013

Variant appearance in text: 225: G230A
PubMed Link: 23457469
Variant Present in the following documents:
  • Main text
  • pone.0055416.pdf
View BVdb publication page