EGR1 c.1511C>T ;(p.P504L)

Variant ID: 5-137803649-C-T

NM_001964.2(EGR1):c.1511C>T;(p.P504L)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: 225: 1511C>T
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
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: 1511C>T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: 225: P504L
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: 225: P504L
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Developing an Amplification Refractory Mutation System-Quantitative Reverse Transcription-PCR Assay for Rapid and Sensitive Screening of SARS-CoV-2 Variants of Concern.

Microbiology Spectrum
Xiong, Dongyan D; Zhang, Xiaoxu X; Shi, Mengjuan M; Wang, Nuo N; He, Ping P; Dong, Zhuo Z; Zhong, Jie J; Luo, Jing J; Wang, Yong Y; Yu, Junping J; Wei, Hongping H
Publication Date: 2022-02-23

Variant appearance in text: 225: P504L
PubMed Link: 34985323
Variant Present in the following documents:
  • spectrum01438-21_supp_1_seq8.xlsx, sheet 1
  • spectrum01438-21_supp_1_seq8.xlsx, sheet 2
View BVdb publication page



Evolution of the SARS-CoV-2 proteome in three dimensions (3D) during the first 6 months of the COVID-19 pandemic.

Proteins
Lubin, Joseph H JH; Zardecki, Christine C; Dolan, Elliott M EM; Lu, Changpeng C; Shen, Zhuofan Z; Dutta, Shuchismita S; Westbrook, John D JD; Hudson, Brian P BP; Goodsell, David S DS; Williams, Jonathan K JK; Voigt, Maria M; Sarma, Vidur V; Xie, Lingjun L; Venkatachalam, Thejasvi T; Arnold, Steven S; Alfaro Alvarado, Luz Helena LH; Catalfano, Kevin K; Khan, Aaliyah A; McCarthy, Erika E; Staggers, Sophia S; Tinsley, Brea B; Trudeau, Alan A; Singh, Jitendra J; Whitmore, Lindsey L; Zheng, Helen H; Benedek, Matthew M; Currier, Jenna J; Dresel, Mark M; Duvvuru, Ashish A; Dyszel, Britney B; Fingar, Emily E; Hennen, Elizabeth M EM; Kirsch, Michael M; Khan, Ali A AA; Labrie-Cleary, Charlotte C; Laporte, Stephanie S; Lenkeit, Evan E; Martin, Kailey K; Orellana, Marilyn M; Ortiz-Alvarez de la Campa, Melanie M; Paredes, Isaac I; Wheeler, Baleigh B; Rupert, Allison A; Sam, Andrew A; See, Katherine K; Soto Zapata, Santiago S; Craig, Paul A PA; Hall, Bonnie L BL; Jiang, Jennifer J; Koeppe, Julia R JR; Mills, Stephen A SA; Pikaart, Michael J MJ; Roberts, Rebecca R; Bromberg, Yana Y; Hoyer, J Steen JS; Duffy, Siobain S; Tischfield, Jay J; Ruiz, Francesc X FX; Arnold, Eddy E; Baum, Jean J; Sandberg, Jesse J; Brannigan, Grace G; Khare, Sagar D SD; Burley, Stephen K SK
Publication Date: 2022-05

Variant appearance in text: 225: P504L
PubMed Link: 34580920
Variant Present in the following documents:
  • Main text
  • PROT-9999-0.pdf
View BVdb publication page



Evolution of the SARS-CoV-2 proteome in three dimensions (3D) during the first 6 months of the COVID-19 pandemic.

Proteins
Lubin, Joseph H JH; Zardecki, Christine C; Dolan, Elliott M EM; Lu, Changpeng C; Shen, Zhuofan Z; Dutta, Shuchismita S; Westbrook, John D JD; Hudson, Brian P BP; Goodsell, David S DS; Williams, Jonathan K JK; Voigt, Maria M; Sarma, Vidur V; Xie, Lingjun L; Venkatachalam, Thejasvi T; Arnold, Steven S; Alfaro Alvarado, Luz Helena LH; Catalfano, Kevin K; Khan, Aaliyah A; McCarthy, Erika E; Staggers, Sophia S; Tinsley, Brea B; Trudeau, Alan A; Singh, Jitendra J; Whitmore, Lindsey L; Zheng, Helen H; Benedek, Matthew M; Currier, Jenna J; Dresel, Mark M; Duvvuru, Ashish A; Dyszel, Britney B; Fingar, Emily E; Hennen, Elizabeth M EM; Kirsch, Michael M; Khan, Ali A AA; Labrie-Cleary, Charlotte C; Laporte, Stephanie S; Lenkeit, Evan E; Martin, Kailey K; Orellana, Marilyn M; Ortiz-Alvarez de la Campa, Melanie M; Paredes, Isaac I; Wheeler, Baleigh B; Rupert, Allison A; Sam, Andrew A; See, Katherine K; Soto Zapata, Santiago S; Craig, Paul A PA; Hall, Bonnie L BL; Jiang, Jennifer J; Koeppe, Julia R JR; Mills, Stephen A SA; Pikaart, Michael J MJ; Roberts, Rebecca R; Bromberg, Yana Y; Hoyer, J Steen JS; Duffy, Siobain S; Tischfield, Jay J; Ruiz, Francesc X FX; Arnold, Eddy E; Baum, Jean J; Sandberg, Jesse J; Brannigan, Grace G; Khare, Sagar D SD; Burley, Stephen K SK
Publication Date: 2021-09-27

Variant appearance in text: 225: P504L
PubMed Link: 34580920
Variant Present in the following documents:
  • Main text
  • PROT-9999-0.pdf
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: 225: 1511C>T
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



Conserved Genomic Terminals of SARS-CoV-2 as Coevolving Functional Elements and Potential Therapeutic Targets.

Msphere
Chan, Agnes P AP; Choi, Yongwook Y; Schork, Nicholas J NJ
Publication Date: 2020-11-25

Variant appearance in text: 225: P504L
PubMed Link: 33239366
Variant Present in the following documents:
  • mSphere.00754-20-st004.xlsx, sheet 5
View BVdb publication page



A Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry
Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG
Publication Date: 2020-11-25

Variant appearance in text: 225: 1511C>T
PubMed Link: 33180487
Variant Present in the following documents:
  • jm0c01482_si_002.xlsx, sheet 1
View BVdb publication page



Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science
Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R
Publication Date: 2019

Variant appearance in text: 225: 1511C>T
PubMed Link: 31708937
Variant Present in the following documents:
  • DataSheet_2.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: 1511C>T
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: 1511C>T
PubMed Link: 29679745
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Human Mutation
Astuti, Dewi D; Sabir, Ataf A; Fulton, Piers P; Zatyka, Malgorzata M; Williams, Denise D; Hardy, Carol C; Milan, Gabriella G; Favaretto, Francesca F; Yu-Wai-Man, Patrick P; Rohayem, Julia J; López de Heredia, Miguel M; Hershey, Tamara T; Tranebjaerg, Lisbeth L; Chen, Jian-Hua JH; Chaussenot, Annabel A; Nunes, Virginia V; Marshall, Bess B; McAfferty, Susan S; Tillmann, Vallo V; Maffei, Pietro P; Paquis-Flucklinger, Veronique V; Geberhiwot, Tarekign T; Mlynarski, Wojciech W; Parkinson, Kay K; Picard, Virginie V; Bueno, Gema Esteban GE; Dias, Renuka R; Arnold, Amy A; Richens, Caitlin C; Paisey, Richard R; Urano, Fumihiko F; Semple, Robert R; Sinnott, Richard R; Barrett, Timothy G TG
Publication Date: 2017-07

Variant appearance in text: 225: 1511C>T
PubMed Link: 28432734
Variant Present in the following documents:
  • HUMU-38-764-s001.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: 225: P504L
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page