EGR1 c.817C>T ;(p.P273S)

Variant ID: 5-137802955-C-T

NM_001964.2(EGR1):c.817C>T;(p.P273S)

This variant was identified in 17 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: 817C>T
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinic and genetic similarity assessments of atypical carcinoid, neuroendocrine neoplasm with atypical carcinoid morphology and elevated mitotic count and large cell neuroendocrine carcinoma.

Bmc Cancer
Zhang, Ying Y; Wang, Weiya W; Hu, Qianrong Q; Liang, Zuoyu Z; Zhou, Ping P; Tang, Yuan Y; Jiang, Lili L
Publication Date: 2022-03-24

Variant appearance in text: 225: 817C>T
PubMed Link: 35331190
Variant Present in the following documents:
  • 12885_2022_9391_MOESM1_ESM.pdf
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: P273S
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: P273S
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



TP53 isoform junction reads based analysis in malignant and normal contexts.

Scientific Reports
Vural, Suleyman S; Chang, Lun-Ching LC; Yee, Laura M LM; Sonkin, Dmitriy D
Publication Date: 2021-08-26

Variant appearance in text: 225: 817C>T
PubMed Link: 34446762
Variant Present in the following documents:
  • 41598_2021_96700_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome Medicine
Gillentine, Madelyn A MA; Wang, Tianyun T; Hoekzema, Kendra K; Rosenfeld, Jill J; Liu, Pengfei P; Guo, Hui H; Kim, Chang N CN; De Vries, Bert B A BBA; Vissers, Lisenka E L M LELM; Nordenskjold, Magnus M; Kvarnung, Malin M; Lindstrand, Anna A; Nordgren, Ann A; Gecz, Jozef J; Iascone, Maria M; Cereda, Anna A; Scatigno, Agnese A; Maitz, Silvia S; Zanni, Ginevra G; Bertini, Enrico E; Zweier, Christiane C; Schuhmann, Sarah S; Wiesener, Antje A; Pepper, Micah M; Panjwani, Heena H; Torti, Erin E; Abid, Farida F; Anselm, Irina I; Srivastava, Siddharth S; Atwal, Paldeep P; Bacino, Carlos A CA; Bhat, Gifty G; Cobian, Katherine K; Bird, Lynne M LM; Friedman, Jennifer J; Wright, Meredith S MS; Callewaert, Bert B; Petit, Florence F; Mathieu, Sophie S; Afenjar, Alexandra A; Christensen, Celenie K CK; White, Kerry M KM; Elpeleg, Orly O; Berger, Itai I; Espineli, Edward J EJ; Fagerberg, Christina C; Brasch-Andersen, Charlotte C; Hansen, Lars Kjærsgaard LK; Feyma, Timothy T; Hughes, Susan S; Thiffault, Isabelle I; Sullivan, Bonnie B; Yan, Shuang S; Keller, Kory K; Keren, Boris B; Mignot, Cyril C; Kooy, Frank F; Meuwissen, Marije M; Basinger, Alice A; Kukolich, Mary M; Philips, Meredith M; Ortega, Lucia L; Drummond-Borg, Margaret M; Lauridsen, Mathilde M; Sorensen, Kristina K; Lehman, Anna A; , ; Lopez-Rangel, Elena E; Levy, Paul P; Lessel, Davor D; Lotze, Timothy T; Madan-Khetarpal, Suneeta S; Sebastian, Jessica J; Vento, Jodie J; Vats, Divya D; Benman, L Manace LM; Mckee, Shane S; Mirzaa, Ghayda M GM; Muss, Candace C; Pappas, John J; Peeters, Hilde H; Romano, Corrado C; Elia, Maurizio M; Galesi, Ornella O; Simon, Marleen E H MEH; van Gassen, Koen L I KLI; Simpson, Kara K; Stratton, Robert R; Syed, Sabeen S; Thevenon, Julien J; Palafoll, Irene Valenzuela IV; Vitobello, Antonio A; Bournez, Marie M; Faivre, Laurence L; Xia, Kun K; , ; Earl, Rachel K RK; Nowakowski, Tomasz T; Bernier, Raphael A RA; Eichler, Evan E EE
Publication Date: 2021-04-19

Variant appearance in text: 225: 817C>T
PubMed Link: 33874999
Variant Present in the following documents:
  • 13073_2021_870_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science
Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA
Publication Date: 2020

Variant appearance in text: 225: 817C>T
PubMed Link: 33123180
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Highly multiplexed quantifications of 299 somatic mutations in colorectal cancer patients by automated MALDI-TOF mass spectrometry.

Bmc Medical Genomics
Xu, Chang C; Peng, Danli D; Li, Jialu J; Chen, Meihua M; Hu, Yujie Y; Hou, Mingliang M; Shang, Qingjuan Q; Liang, Qi Q; Li, Jie J; Li, Wenfeng W; Wu, Xiaoli X; Liu, Changbao C; Hu, Wanle W; Cai, Mao M; Zhang, Huxiang H; Chen, Guorong G; Yu, Lingling L; Zheng, Xiaoqun X; Jiang, Feizhao F; Luan, Ju J; Jin, Shengnan S; Ding, Chunming C
Publication Date: 2020-10-02

Variant appearance in text: 225: 817C>T
PubMed Link: 33008377
Variant Present in the following documents:
  • 12920_2020_804_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Mapping the spreading routes of lymphatic metastases in human colorectal cancer.

Nature Communications
Zhang, Chong C; Zhang, Lin L; Xu, Tianlei T; Xue, Ruidong R; Yu, Liang L; Zhu, Yuelu Y; Wu, Yunlong Y; Zhang, Qingqing Q; Li, Dongdong D; Shen, Shuohao S; Tan, Dongfeng D; Bai, Fan F; Zhang, Haizeng H
Publication Date: 2020-04-24

Variant appearance in text: 225: 817C>T
PubMed Link: 32332722
Variant Present in the following documents:
  • 41467_2020_15886_MOESM5_ESM.xlsx, sheet 8
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: 817C>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: 817C>T
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.

Genomics & Informatics
Yoon, Kyong-Ah KA; Woo, Sang Myung SM; Kim, Yun-Hee YH; Kong, Sun-Young SY; Han, Sung-Sik SS; Park, Sang-Jae SJ; Lee, Woo Jin WJ
Publication Date: 2018-12

Variant appearance in text: EGR1: 817C>T
PubMed Link: 30602096
Variant Present in the following documents:
  • Main text
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: 817C>T
PubMed Link: 29679745
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care.

Npj Genomic Medicine
Rennert, Hanna H; Eng, Kenneth K; Zhang, Tuo T; Tan, Adrian A; Xiang, Jenny J; Romanel, Alessandro A; Kim, Robert R; Tam, Wayne W; Liu, Yen-Chun YC; Bhinder, Bhavneet B; Cyrta, Joanna J; Beltran, Himisha H; Robinson, Brian B; Mosquera, Juan Miguel JM; Fernandes, Helen H; Demichelis, Francesca F; Sboner, Andrea A; Kluk, Michael M; Rubin, Mark A MA; Elemento, Olivier O
Publication Date: 2016

Variant appearance in text: 225: 817C>T
PubMed Link: 28781886
Variant Present in the following documents:
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: EGR1: 817C>T; P273S
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, 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: 817C>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: P273S
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



In vivo and in vitro alterations in influenza A/H3N2 virus M2 and hemagglutinin genes: effect of passage in MDCK-SIAT1 cells and conventional MDCK cells.

Journal Of Clinical Microbiology
Li, Danjuan D; Saito, Reiko R; Suzuki, Yasushi Y; Sato, Isamu I; Zaraket, Hassan H; Dapat, Clyde C; Caperig-Dapat, Isolde Ma IM; Suzuki, Hiroshi H
Publication Date: 2009-02

Variant appearance in text: 225: P273S
PubMed Link: 19091815
Variant Present in the following documents:
  • Main text
View BVdb publication page