EGR1 c.204G>A ;(p.G68=)

Variant ID: 5-137801654-G-A

NM_001964.2(EGR1):c.204G>A;(p.G68=)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11

Variant appearance in text: 225: 204G>A; G68=
PubMed Link: 36774361
Variant Present in the following documents:
  • 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: 225: 204G>A
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: 225: 204G>A
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
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: 204G>A
PubMed Link: 33123180
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



A vaccine-based nanosystem for initiating innate immunity and improving tumor immunotherapy.

Nature Communications
Zheng, Di-Wei DW; Gao, Fan F; Cheng, Qian Q; Bao, Peng P; Dong, Xue X; Fan, Jin-Xuan JX; Song, Wen W; Zeng, Xuan X; Cheng, Si-Xue SX; Zhang, Xian-Zheng XZ
Publication Date: 2020-04-24

Variant appearance in text: 225: G68G
PubMed Link: 32332752
Variant Present in the following documents:
  • 41467_2020_15927_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



High-density genetic linkage-map construction of hawthorn and QTL mapping for important fruit traits.

Plos One
Zhao, Yuhui Y; Zhao, Yidi Y; Guo, Yinshan Y; Su, Kai K; Shi, Xiaochang X; Liu, Di D; Zhang, Jijun J
Publication Date: 2020

Variant appearance in text: 225: 204G>A
PubMed Link: 32045463
Variant Present in the following documents:
  • pone.0229020.s004.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: 204G>A
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: 204G>A
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: 204G>A
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: 204G>A
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Somatic mtDNA variation is an important component of Parkinson's disease.

Neurobiology Of Aging
Coxhead, Jonathan J; Kurzawa-Akanbi, Marzena M; Hussain, Rafiqul R; Pyle, Angela A; Chinnery, Patrick P; Hudson, Gavin G
Publication Date: 2016-02

Variant appearance in text: 225: G68G
PubMed Link: 26639157
Variant Present in the following documents:
  • mmc2.xlsx, sheet 2
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: 204G>A
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
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
View BVdb publication page



Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.

Elife
Ju, Young Seok YS; Alexandrov, Ludmil B LB; Gerstung, Moritz M; Martincorena, Inigo I; Nik-Zainal, Serena S; Ramakrishna, Manasa M; Davies, Helen R HR; Papaemmanuil, Elli E; Gundem, Gunes G; Shlien, Adam A; Bolli, Niccolo N; Behjati, Sam S; Tarpey, Patrick S PS; Nangalia, Jyoti J; Massie, Charles E CE; Butler, Adam P AP; Teague, Jon W JW; Vassiliou, George S GS; Green, Anthony R AR; Du, Ming-Qing MQ; Unnikrishnan, Ashwin A; Pimanda, John E JE; Teh, Bin Tean BT; Munshi, Nikhil N; Greaves, Mel M; Vyas, Paresh P; El-Naggar, Adel K AK; Santarius, Tom T; Collins, V Peter VP; Grundy, Richard R; Taylor, Jack A JA; Hayes, D Neil DN; Malkin, David D; , ; , ; , ; Foster, Christopher S CS; Warren, Anne Y AY; Whitaker, Hayley C HC; Brewer, Daniel D; Eeles, Rosalind R; Cooper, Colin C; Neal, David D; Visakorpi, Tapio T; Isaacs, William B WB; Bova, G Steven GS; Flanagan, Adrienne M AM; Futreal, P Andrew PA; Lynch, Andy G AG; Chinnery, Patrick F PF; McDermott, Ultan U; Stratton, Michael R MR; Campbell, Peter J PJ
Publication Date: 2014-10-01

Variant appearance in text: 225: G68G
PubMed Link: 25271376
Variant Present in the following documents:
  • elife02935s002.xlsx, sheet 3
View BVdb publication page



Utility of Synechocystis sp. PCC 6803 glutaredoxin A as a platform to study high-resolution mutagenesis of proteins.

Frontiers In Plant Science
Knaff, David B DB; Sutton, Roger B RB
Publication Date: 2013

Variant appearance in text: 225: Gly68Gly
PubMed Link: 24298277
Variant Present in the following documents:
  • fpls-04-00461.pdf
View BVdb publication page