EGR1 c.994C>T ;(p.P332S)

Variant ID: 5-137803132-C-T

NM_001964.2(EGR1):c.994C>T;(p.P332S)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


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: 994C>T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
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: 994C>T
PubMed Link: 33180487
Variant Present in the following documents:
  • jm0c01482_si_002.xlsx, sheet 1
View BVdb publication page



Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

The Lancet. Neurology
Moore, Katrina M KM; Nicholas, Jennifer J; Grossman, Murray M; McMillan, Corey T CT; Irwin, David J DJ; Massimo, Lauren L; Van Deerlin, Vivianna M VM; Warren, Jason D JD; Fox, Nick C NC; Rossor, Martin N MN; Mead, Simon S; Bocchetta, Martina M; Boeve, Bradley F BF; Knopman, David S DS; Graff-Radford, Neill R NR; Forsberg, Leah K LK; Rademakers, Rosa R; Wszolek, Zbigniew K ZK; van Swieten, John C JC; Jiskoot, Lize C LC; Meeter, Lieke H LH; Dopper, Elise Gp EG; Papma, Janne M JM; Snowden, Julie S JS; Saxon, Jennifer J; Jones, Matthew M; Pickering-Brown, Stuart S; Le Ber, Isabelle I; Camuzat, Agnès A; Brice, Alexis A; Caroppo, Paola P; Ghidoni, Roberta R; Pievani, Michela M; Benussi, Luisa L; Binetti, Giuliano G; Dickerson, Bradford C BC; Lucente, Diane D; Krivensky, Samantha S; Graff, Caroline C; Öijerstedt, Linn L; Fallström, Marie M; Thonberg, Håkan H; Ghoshal, Nupur N; Morris, John C JC; Borroni, Barbara B; Benussi, Alberto A; Padovani, Alessandro A; Galimberti, Daniela D; Scarpini, Elio E; Fumagalli, Giorgio G GG; Mackenzie, Ian R IR; Hsiung, Ging-Yuek R GR; Sengdy, Pheth P; Boxer, Adam L AL; Rosen, Howie H; Taylor, Joanne B JB; Synofzik, Matthis M; Wilke, Carlo C; Sulzer, Patricia P; Hodges, John R JR; Halliday, Glenda G; Kwok, John J; Sanchez-Valle, Raquel R; Lladó, Albert A; Borrego-Ecija, Sergi S; Santana, Isabel I; Almeida, Maria Rosário MR; Tábuas-Pereira, Miguel M; Moreno, Fermin F; Barandiaran, Myriam M; Indakoetxea, Begoña B; Levin, Johannes J; Danek, Adrian A; Rowe, James B JB; Cope, Thomas E TE; Otto, Markus M; Anderl-Straub, Sarah S; de Mendonça, Alexandre A; Maruta, Carolina C; Masellis, Mario M; Black, Sandra E SE; Couratier, Philippe P; Lautrette, Geraldine G; Huey, Edward D ED; Sorbi, Sandro S; Nacmias, Benedetta B; Laforce, Robert R; Tremblay, Marie-Pier L ML; Vandenberghe, Rik R; Damme, Philip Van PV; Rogalski, Emily J EJ; Weintraub, Sandra S; Gerhard, Alexander A; Onyike, Chiadi U CU; Ducharme, Simon S; Papageorgiou, Sokratis G SG; Ng, Adeline Su Lyn ASL; Brodtmann, Amy A; Finger, Elizabeth E; Guerreiro, Rita R; Bras, Jose J; Rohrer, Jonathan D JD; ,
Publication Date: 2020-02

Variant appearance in text: 225: P332S
PubMed Link: 31810826
Variant Present in the following documents:
  • NIHMS1067362-supplement-Supplement.pdf
View BVdb publication page



Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science
Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2019-05

Variant appearance in text: 225: P332S
PubMed Link: 30811755
Variant Present in the following documents:
  • CAS-110-1760-s002.xlsx, sheet 2
View BVdb publication page



Targeting DDR2 enhances tumor response to anti-PD-1 immunotherapy.

Science Advances
Tu, Megan M MM; Lee, Francis Y F FYF; Jones, Robert T RT; Kimball, Abigail K AK; Saravia, Elizabeth E; Graziano, Robert F RF; Coleman, Brianne B; Menard, Krista K; Yan, Jun J; Michaud, Erin E; Chang, Han H; Abdel-Hafiz, Hany A HA; Rozhok, Andrii I AI; Duex, Jason E JE; Agarwal, Neeraj N; Chauca-Diaz, Ana A; Johnson, Linda K LK; Ng, Terry L TL; Cambier, John C JC; Clambey, Eric T ET; Costello, James C JC; Korman, Alan J AJ; Theodorescu, Dan D
Publication Date: 2019-02

Variant appearance in text: 225: 994C>T
PubMed Link: 30801016
Variant Present in the following documents:
  • aav2437_Table_S1.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: 994C>T
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: 225: P332S
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 6
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: 994C>T
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.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: P332S
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Survival analysis of infected mice reveals pathogenic variations in the genome of avian H1N1 viruses.

Scientific Reports
Koçer, Zeynep A ZA; Fan, Yiping Y; Huether, Robert R; Obenauer, John J; Webby, Richard J RJ; Zhang, Jinghui J; Webster, Robert G RG; Wu, Gang G
Publication Date: 2014-12-12

Variant appearance in text: 225: P332S
PubMed Link: 25503687
Variant Present in the following documents:
  • srep07455-s1.pdf
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: P332S
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness.

Plos One
Ochala, Julien J; Ravenscroft, Gianina G; Laing, Nigel G NG; Nowak, Kristen J KJ
Publication Date: 2012

Variant appearance in text: 225: Pro332Ser
PubMed Link: 23029319
Variant Present in the following documents:
  • Main text
  • pone.0045923.pdf
View BVdb publication page



Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice
Friedl, Waltraut W; Aretz, Stefan S
Publication Date: 2005-09-15

Variant appearance in text: 225: 994C>T
PubMed Link: 20223039
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Bmc Medical Genetics
Stekrova, Jitka J; Sulova, Martina M; Kebrdlova, Vera V; Zidkova, Katerina K; Kotlas, Jaroslav J; Ilencikova, Denisa D; Vesela, Kamila K; Kohoutova, Milada M
Publication Date: 2007-04-05

Variant appearance in text: 225: 994C>T
PubMed Link: 17411426
Variant Present in the following documents:
  • 1471-2350-8-16.pdf
View BVdb publication page