EGR1 c.647T>C ;(p.I216T)

Variant ID: 5-137802785-T-C

NM_001964.2(EGR1):c.647T>C;(p.I216T)

This variant was identified in 9 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: 647T>C
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology
Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC
Publication Date: 2022-10-21

Variant appearance in text: 225: 647T>C
PubMed Link: 36271293
Variant Present in the following documents:
  • 42003_2022_4087_MOESM5_ESM.xlsx, sheet 7
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: 647T>C
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology
Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A
Publication Date: 2021-02-05

Variant appearance in text: 225: 647T>C
PubMed Link: 33546694
Variant Present in the following documents:
  • 12915_2021_962_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.

Nature Genetics
Surendran, Praveen P; Feofanova, Elena V EV; Lahrouchi, Najim N; Ntalla, Ioanna I; Karthikeyan, Savita S; Cook, James J; Chen, Lingyan L; Mifsud, Borbala B; Yao, Chen C; Kraja, Aldi T AT; Cartwright, James H JH; Hellwege, Jacklyn N JN; Giri, Ayush A; Tragante, Vinicius V; Thorleifsson, Gudmar G; Liu, Dajiang J DJ; Prins, Bram P BP; Stewart, Isobel D ID; Cabrera, Claudia P CP; Eales, James M JM; Akbarov, Artur A; Auer, Paul L PL; Bielak, Lawrence F LF; Bis, Joshua C JC; Braithwaite, Vickie S VS; Brody, Jennifer A JA; Daw, E Warwick EW; Warren, Helen R HR; Drenos, Fotios F; Nielsen, Sune Fallgaard SF; Faul, Jessica D JD; Fauman, Eric B EB; Fava, Cristiano C; Ferreira, Teresa T; Foley, Christopher N CN; Franceschini, Nora N; Gao, He H; Giannakopoulou, Olga O; Giulianini, Franco F; Gudbjartsson, Daniel F DF; Guo, Xiuqing X; Harris, Sarah E SE; Havulinna, Aki S AS; Helgadottir, Anna A; Huffman, Jennifer E JE; Hwang, Shih-Jen SJ; Kanoni, Stavroula S; Kontto, Jukka J; Larson, Martin G MG; Li-Gao, Ruifang R; Lindström, Jaana J; Lotta, Luca A LA; Lu, Yingchang Y; Luan, Jian'an J; Mahajan, Anubha A; Malerba, Giovanni G; Masca, Nicholas G D NGD; Mei, Hao H; Menni, Cristina C; Mook-Kanamori, Dennis O DO; Mosen-Ansorena, David D; Müller-Nurasyid, Martina M; Paré, Guillaume G; Paul, Dirk S DS; Perola, Markus M; Poveda, Alaitz A; Rauramaa, Rainer R; Richard, Melissa M; Richardson, Tom G TG; Sepúlveda, Nuno N; Sim, Xueling X; Smith, Albert V AV; Smith, Jennifer A JA; Staley, James R JR; Stanáková, Alena A; Sulem, Patrick P; Thériault, Sébastien S; Thorsteinsdottir, Unnur U; Trompet, Stella S; Varga, Tibor V TV; Velez Edwards, Digna R DR; Veronesi, Giovanni G; Weiss, Stefan S; Willems, Sara M SM; Yao, Jie J; Young, Robin R; Yu, Bing B; Zhang, Weihua W; Zhao, Jing-Hua JH; Zhao, Wei W; Zhao, Wei W; Evangelou, Evangelos E; Aeschbacher, Stefanie S; Asllanaj, Eralda E; Blankenberg, Stefan S; Bonnycastle, Lori L LL; Bork-Jensen, Jette J; Brandslund, Ivan I; Braund, Peter S PS; Burgess, Stephen S; Cho, Kelly K; Christensen, Cramer C; Connell, John J; Mutsert, Renée de R; Dominiczak, Anna F AF; Dörr, Marcus M; Eiriksdottir, Gudny G; Farmaki, Aliki-Eleni AE; Gaziano, J Michael JM; Grarup, Niels N; Grove, Megan L ML; Hallmans, Göran G; Hansen, Torben T; Have, Christian T CT; Heiss, Gerardo G; Jørgensen, Marit E ME; Jousilahti, Pekka P; Kajantie, Eero E; Kamat, Mihir M; Käräjämäki, AnneMari A; Karpe, Fredrik F; Koistinen, Heikki A HA; Kovesdy, Csaba P CP; Kuulasmaa, Kari K; Laatikainen, Tiina T; Lannfelt, Lars L; Lee, I-Te IT; Lee, Wen-Jane WJ; , ; Linneberg, Allan A; Martin, Lisa W LW; Moitry, Marie M; Nadkarni, Girish G; Neville, Matt J MJ; Palmer, Colin N A CNA; Papanicolaou, George J GJ; Pedersen, Oluf O; Peters, James J; Poulter, Neil N; Rasheed, Asif A; Rasmussen, Katrine L KL; Rayner, N William NW; Mägi, Reedik R; Renström, Frida F; Rettig, Rainer R; Rossouw, Jacques J; Schreiner, Pamela J PJ; Sever, Peter S PS; Sigurdsson, Emil L EL; Skaaby, Tea T; Sun, Yan V YV; Sundstrom, Johan J; Thorgeirsson, Gudmundur G; Esko, Tõnu T; Trabetti, Elisabetta E; Tsao, Philip S PS; Tuomi, Tiinamaija T; Turner, Stephen T ST; Tzoulaki, Ioanna I; Vaartjes, Ilonca I; Vergnaud, Anne-Claire AC; Willer, Cristen J CJ; Wilson, Peter W F PWF; Witte, Daniel R DR; Yonova-Doing, Ekaterina E; Zhang, He H; Aliya, Naheed N; Almgren, Peter P; Amouyel, Philippe P; Asselbergs, Folkert W FW; Barnes, Michael R MR; Blakemore, Alexandra I AI; Boehnke, Michael M; Bots, Michiel L ML; Bottinger, Erwin P EP; Buring, Julie E JE; Chambers, John C JC; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Conen, David D; Correa, Adolfo A; Davey Smith, George G; Boer, Rudolf A de RA; Deary, Ian J IJ; Dedoussis, George G; Deloukas, Panos P; Di Angelantonio, Emanuele E; Elliott, Paul P; , ; , ; Felix, Stephan B SB; Ferrières, Jean J; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Franks, Stephen S; Frossard, Philippe P; Gambaro, Giovanni G; Gaunt, Tom R TR; Groop, Leif L; Gudnason, Vilmundur V; Harris, Tamara B TB; Hayward, Caroline C; Hennig, Branwen J BJ; Herzig, Karl-Heinz KH; Ingelsson, Erik E; Tuomilehto, Jaakko J; Järvelin, Marjo-Riitta MR; Jukema, J Wouter JW; Kardia, Sharon L R SLR; Kee, Frank F; Kooner, Jaspal S JS; Kooperberg, Charles C; Launer, Lenore J LJ; Lind, Lars L; Loos, Ruth J F RJF; Majumder, Abdulla Al Shafi AAS; Laakso, Markku M; McCarthy, Mark I MI; Melander, Olle O; Mohlke, Karen L KL; Murray, Alison D AD; Nordestgaard, Børge Grønne BG; Orho-Melander, Marju M; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmas, Walter W; Polasek, Ozren O; Porteous, David J DJ; Prentice, Andrew M AM; Province, Michael A MA; Relton, Caroline L CL; Rice, Kenneth K; Ridker, Paul M PM; Rolandsson, Olov O; Rosendaal, Frits R FR; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Sattar, Naveed N; Sheu, Wayne H-H WH; Smith, Blair H BH; Soranzo, Nicole N; Spector, Timothy D TD; Starr, John M JM; Sebert, Sylvain S; Taylor, Kent D KD; Lakka, Timo A TA; Timpson, Nicholas J NJ; Tobin, Martin D MD; , ; van der Harst, Pim P; van der Meer, Peter P; Ramachandran, Vasan S VS; Verweij, Niek N; Virtamo, Jarmo J; Völker, Uwe U; Weir, David R DR; Zeggini, Eleftheria E; Charchar, Fadi J FJ; , ; Wareham, Nicholas J NJ; Langenberg, Claudia C; Tomaszewski, Maciej M; Butterworth, Adam S AS; Caulfield, Mark J MJ; Danesh, John J; Edwards, Todd L TL; Holm, Hilma H; Hung, Adriana M AM; Lindgren, Cecilia M CM; Liu, Chunyu C; Manning, Alisa K AK; Morris, Andrew P AP; Morrison, Alanna C AC; O'Donnell, Christopher J CJ; Psaty, Bruce M BM; Saleheen, Danish D; Stefansson, Kari K; Boerwinkle, Eric E; Chasman, Daniel I DI; Levy, Daniel D; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Howson, Joanna M M JMM
Publication Date: 2020-12

Variant appearance in text: 225: Ile216Thr
PubMed Link: 33230300
Variant Present in the following documents:
  • Main text
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: 647T>C
PubMed Link: 33180487
Variant Present in the following documents:
  • jm0c01482_si_002.xlsx, sheet 1
View BVdb publication page



Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.

Molecular Genetics & Genomic Medicine
Katneni, Upendra K UK; Liss, Aaron A; Holcomb, David D; Katagiri, Nobuko H NH; Hunt, Ryan R; Bar, Haim H; Ismail, Amra A; Komar, Anton A AA; Kimchi-Sarfaty, Chava C
Publication Date: 2019-08

Variant appearance in text: 225: 647T>C
PubMed Link: 31257730
Variant Present in the following documents:
  • MGG3-7-e840-s001.xls, 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: 647T>C
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: 225: 647T>C
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page