EGR1 c.688G>C ;(p.G230R)

Variant ID: 5-137802826-G-C

NM_001964.2(EGR1):c.688G>C;(p.G230R)

This variant was identified in 11 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: G230R
PubMed Link: 36257408
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
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: 688G>C
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
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: G230R
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



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: 225: G230R
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: 225: G230R
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Mycobacterium leprae diversity and population dynamics in medieval Europe from novel ancient genomes.

Bmc Biology
Pfrengle, Saskia S; Neukamm, Judith J; Guellil, Meriam M; Keller, Marcel M; Molak, Martyna M; Avanzi, Charlotte C; Kushniarevich, Alena A; Montes, Núria N; Neumann, Gunnar U GU; Reiter, Ella E; Tukhbatova, Rezeda I RI; Berezina, Nataliya Y NY; Buzhilova, Alexandra P AP; Korobov, Dmitry S DS; Suppersberger Hamre, Stian S; Matos, Vitor M J VMJ; Ferreira, Maria T MT; González-Garrido, Laura L; Wasterlain, Sofia N SN; Lopes, Célia C; Santos, Ana Luisa AL; Antunes-Ferreira, Nathalie N; Duarte, Vitória V; Silva, Ana Maria AM; Melo, Linda L; Sarkic, Natasa N; Saag, Lehti L; Tambets, Kristiina K; Busso, Philippe P; Cole, Stewart T ST; Avlasovich, Alexei A; Roberts, Charlotte A CA; Sheridan, Alison A; Cessford, Craig C; Robb, John J; Krause, Johannes J; Scheib, Christiana L CL; Inskip, Sarah A SA; Schuenemann, Verena J VJ
Publication Date: 2021-10-05

Variant appearance in text: 225: 688G>C
PubMed Link: 34610848
Variant Present in the following documents:
  • 12915_2021_1120_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multilocus Genotyping of Giardia duodenalis in Mostly Asymptomatic Indigenous People from the Tapirapé Tribe, Brazilian Amazon.

Pathogens (Basel, Switzerland)
Köster, Pamela Carolina PC; Malheiros, Antonio F AF; Shaw, Jeffrey J JJ; Balasegaram, Sooria S; Prendergast, Alexander A; Lucaccioni, Héloïse H; Moreira, Luciana Melhorança LM; Lemos, Larissa M S LMS; Dashti, Alejandro A; Bailo, Begoña B; Marcili, Arlei A; Sousa Soares, Herbert H; Gennari, Solange Maria SM; Calero-Bernal, Rafael R; González-Barrio, David D; Carmena, David D
Publication Date: 2021-02-14

Variant appearance in text: 225: G230R
PubMed Link: 33672794
Variant Present in the following documents:
  • Main text
  • pathogens-10-00206.pdf
View BVdb publication page



Lecithin:cholesterol acyltransferase: symposium on 50 years of biomedical research from its discovery to latest findings.

Journal Of Lipid Research
Norum, Kaare R KR; Remaley, Alan T AT; Miettinen, Helena E HE; Strøm, Erik H EH; Balbo, Bruno E P BEP; Sampaio, Carlos A T L CATL; Wiig, Ingrid I; Kuivenhoven, Jan Albert JA; Calabresi, Laura L; Tesmer, John J JJ; Zhou, Mingyue M; Ng, Dominic S DS; Skeie, Bjørn B; Karathanasis, Sotirios K SK; Manthei, Kelly A KA; Retterstøl, Kjetil K
Publication Date: 2020-08

Variant appearance in text: 225: G230R
PubMed Link: 32482717
Variant Present in the following documents:
  • jlrS120000720.pdf
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: 688G>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: 688G>C
PubMed Link: 29679745
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Polymorphisms of lipid metabolism enzyme-coding genes in patients with diabetic dyslipidemia.

Anatolian Journal Of Cardiology
Tetik Vardarlı, Aslı A; Harman, Ece E; Bozok Çetintaş, Vildan V; Kayıkçıoğlu, Meral M; Vardarlı, Egemen E; Zengi, Ayhan A; Küçükaslan, Ali Şahin AŞ; Eroğlu, Zuhal Z
Publication Date: 2017-04

Variant appearance in text: 225: Gly230Arg
PubMed Link: 28315561
Variant Present in the following documents:
  • Main text
  • AJC-17-313.pdf
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: 688G>C
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page