EGR1 c.914A>G ;(p.K305R)

Variant ID: 5-137803052-A-G

NM_001964.2(EGR1):c.914A>G;(p.K305R)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: 225: 914A>G
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: 225: 914A>G
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



HDAC2 Facilitates Pancreatic Cancer Metastasis.

Cancer Research
Krauß, Lukas L; Urban, Bettina C BC; Hastreiter, Sieglinde S; Schneider, Carolin C; Wenzel, Patrick P; Hassan, Zonera Z; Wirth, Matthias M; Lankes, Katharina K; Terrasi, Andrea A; Klement, Christine C; Cernilogar, Filippo M FM; Öllinger, Rupert R; de Andrade Krätzig, Niklas N; Engleitner, Thomas T; Schmid, Roland M RM; Steiger, Katja K; Rad, Roland R; Krämer, Oliver H OH; Reichert, Maximilian M; Schotta, Gunnar G; Saur, Dieter D; Schneider, Günter G
Publication Date: 2022-02-15

Variant appearance in text: 225: 914A>G
PubMed Link: 34903606
Variant Present in the following documents:
  • can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2
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: 914A>G
PubMed Link: 33180487
Variant Present in the following documents:
  • jm0c01482_si_002.xlsx, sheet 1
View BVdb publication page



Epidemic history and baseline resistance to NS5A-specific direct acting drugs of hepatitis C virus in Spain.

Scientific Reports
Palladino, Claudia C; Ezeonwumelu, Ifeanyi Jude IJ; Mate-Cano, Irene I; Borrego, Pedro P; Martínez-Román, Paula P; Arca-Lafuente, Sonia S; Resino, Salvador S; Taveira, Nuno N; Briz, Verónica V
Publication Date: 2020-08-03

Variant appearance in text: 225: K305R
PubMed Link: 32747734
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_69692.pdf
View BVdb publication page



Nuclear receptor corepressors in intellectual disability and autism.

Molecular Psychiatry
Kong, Yan Y; Zhou, Wenjun W; Sun, Zheng Z
Publication Date: 2020-10

Variant appearance in text: 225: K305R
PubMed Link: 32034290
Variant Present in the following documents:
  • Main text
  • nihms-1553359.pdf
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: 914A>G
PubMed Link: 31708937
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
View BVdb publication page



Mutational processes shape the landscape of TP53 mutations in human cancer.

Nature Genetics
Giacomelli, Andrew O AO; Yang, Xiaoping X; Lintner, Robert E RE; McFarland, James M JM; Duby, Marc M; Kim, Jaegil J; Howard, Thomas P TP; Takeda, David Y DY; Ly, Seav Huong SH; Kim, Eejung E; Gannon, Hugh S HS; Hurhula, Brian B; Sharpe, Ted T; Goodale, Amy A; Fritchman, Briana B; Steelman, Scott S; Vazquez, Francisca F; Tsherniak, Aviad A; Aguirre, Andrew J AJ; Doench, John G JG; Piccioni, Federica F; Roberts, Charles W M CWM; Meyerson, Matthew M; Getz, Gad G; Johannessen, Cory M CM; Root, David E DE; Hahn, William C WC
Publication Date: 2018-10

Variant appearance in text: 225: K305R
PubMed Link: 30224644
Variant Present in the following documents:
  • NIHMS1501645-supplement-4.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: 914A>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: 914A>G
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The CDC Hemophilia B mutation project mutation list: a new online resource.

Molecular Genetics & Genomic Medicine
Li, Tengguo T; Miller, Connie H CH; Payne, Amanda B AB; Craig Hooper, W W
Publication Date: 2013-11

Variant appearance in text: 225: 914A>G
PubMed Link: 24498619
Variant Present in the following documents:
  • mgg30001-0238-SD1.xlsx, sheet 2
View BVdb publication page



TRIM27 negatively regulates NOD2 by ubiquitination and proteasomal degradation.

Plos One
Zurek, Birte B; Schoultz, Ida I; Neerincx, Andreas A; Napolitano, Luisa M LM; Birkner, Katharina K; Bennek, Eveline E; Sellge, Gernot G; Lerm, Maria M; Meroni, Germana G; Söderholm, Johan D JD; Kufer, Thomas A TA
Publication Date: 2012

Variant appearance in text: 225: K305R
PubMed Link: 22829933
Variant Present in the following documents:
  • pone.0041255.pdf
View BVdb publication page



Molecular evolution of rbcL in three gymnosperm families: identifying adaptive and coevolutionary patterns.

Biology Direct
Sen, Lin L; Fares, Mario A MA; Liang, Bo B; Gao, Lei L; Wang, Bo B; Wang, Ting T; Su, Ying-Juan YJ
Publication Date: 2011-06-03

Variant appearance in text: 225: K305R
PubMed Link: 21639885
Variant Present in the following documents:
  • Main text
  • 1745-6150-6-29.pdf
View BVdb publication page