EGR1 c.153C>G ;(p.A51=)

Variant ID: 5-137801603-C-G

NM_001964.2(EGR1):c.153C>G;(p.A51=)

This variant was identified in 28 publications

View GRCh38 version.




Publications:


The role of costimulatory molecules in glioma biology and immune microenvironment.

Frontiers In Genetics
Wang, Ji J; Wang, Zi Z; Jia, Wenxue W; Gong, Wei W; Dong, Bokai B; Wang, Zhuangzhuang Z; Zhou, Meng M; Tian, Chunlei C
Publication Date: 2022

Variant appearance in text: 225: a51a
PubMed Link: 36437961
Variant Present in the following documents:
  • Table1.xlsx, sheet 4
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: 225: A51A
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: 225: A51A
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Circular RNA circPOSTN promotes neovascularization by regulating miR-219a-2-3p/STC1 axis and stimulating the secretion of VEGFA in glioblastoma.

Cell Death Discovery
Long, Niya N; Xu, Xu X; Lin, Hongyi H; Lv, Ying Y; Zou, Shenghui S; Cao, Han H; Chen, Xueshu X; Zhao, Yan Y; Qi, Xiaolan X; Yang, Hua H; Liu, Jian J; Chu, Liangzhao L
Publication Date: 2022-08-04

Variant appearance in text: 225: a51a
PubMed Link: 35927233
Variant Present in the following documents:
  • 41420_2022_1136_MOESM3_ESM.xlsx, sheet 1
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: 153C>G
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



The Long Non-Coding RNA FAM222A-AS1 Negatively Modulates MiR-Let-7f to Promote Colorectal Cancer Progression.

Frontiers In Oncology
Song, Mengmeng M; Li, Ye Y; Chen, Zhewen Z; Zhang, Jie J; Yang, Liuqing L; Zhang, Fan F; Song, Chunhua C; Miao, Mingyong M; Chang, Wenjun W; Shi, Hanping H
Publication Date: 2022

Variant appearance in text: 225: a51a
PubMed Link: 35646686
Variant Present in the following documents:
  • Table_12.xlsx, sheet 2
View BVdb publication page



P4HA1 Regulates CD31 via COL6A1 in the Transition of Glioblastoma Stem-Like Cells to Tumor Endothelioid Cells.

Frontiers In Oncology
Han, Xiangming X; Wang, Qiyan Q; Fang, Sheng S; Wang, Jialin J; Liu, Fusheng F; Zhang, Junwen J; Jin, Guishan G
Publication Date: 2022

Variant appearance in text: 225: a51a
PubMed Link: 35494018
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Complete mitogenomes of four Trichiurus species: A taxonomic review of the T.lepturus species complex.

Zookeys
Yi, Mu-Rong MR; Hsu, Kui-Ching KC; Gu, Sui S; He, Xiong-Bo XB; Luo, Zhi-Sen ZS; Lin, Hung-Du HD; Yan, Yun-Rong YR
Publication Date: 2022

Variant appearance in text: 225: A51A
PubMed Link: 35173516
Variant Present in the following documents:
  • Main text
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: A51A
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
  • 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: A51A
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Ethnicity Differences in the Association of UCP1-3826A/G, UCP2-866G/A and Ala55Val, and UCP3-55C/T Polymorphisms with Type 2 Diabetes Mellitus Susceptibility: An Updated Meta-Analysis.

Biomed Research International
Huang, Rong R; Cai, Tingting T; Zhou, Yunting Y; Wang, Yuming Y; Wang, Huiying H; Shen, Ziyang Z; Xia, Wenqing W; Liu, Xiaomei X; Ding, Bo B; Luo, Yong Y; Yan, Rengna R; Li, Huiqin H; Wu, Jindan J; Ma, Jianhua J
Publication Date: 2021

Variant appearance in text: 225: A51A
PubMed Link: 34712730
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.

Circulation. Genomic And Precision Medicine
Choi, Seung Hoan SH; Jurgens, Sean J SJ; Haggerty, Christopher M CM; Hall, Amelia W AW; Halford, Jennifer L JL; Morrill, Valerie N VN; Weng, Lu-Chen LC; Lagerman, Braxton B; Mirshahi, Tooraj T; Pettinger, Mary M; Guo, Xiuqing X; Lin, Henry J HJ; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Kornej, Jelena J; Lin, Honghuang H; Moscati, Arden A; Nadkarni, Girish N GN; Brody, Jennifer A JA; Wiggins, Kerri L KL; Cade, Brian E BE; Lee, Jiwon J; Austin-Tse, Christina C; Blackwell, Tom T; Chaffin, Mark D MD; Lee, Christina J-Y CJ; Rehm, Heidi L HL; Roselli, Carolina C; , ; Redline, Susan S; Mitchell, Braxton D BD; Sotoodehnia, Nona N; Psaty, Bruce M BM; Heckbert, Susan R SR; Loos, Ruth J F RJF; Vasan, Ramachandran S RS; Benjamin, Emelia J EJ; Correa, Adolfo A; Boerwinkle, Eric E; Arking, Dan E DE; Rotter, Jerome I JI; Rich, Stephen S SS; Whitsel, Eric A EA; Perez, Marco M; Kooperberg, Charles C; Fornwalt, Brandon K BK; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA; ,
Publication Date: 2021-08

Variant appearance in text: 225: 153C>G
PubMed Link: 34319147
Variant Present in the following documents:
  • hcg-14-e003300-s001.pdf
View BVdb publication page



Development and validation of the CHIME simulation model to assess lifetime health outcomes of prediabetes and type 2 diabetes in Chinese populations: A modeling study.

Plos Medicine
Quan, Jianchao J; Ng, Carmen S CS; Kwok, Harley H Y HHY; Zhang, Ada A; Yuen, Yuet H YH; Choi, Cheung-Hei CH; Siu, Shing-Chung SC; Tang, Simon Y SY; Wat, Nelson M NM; Woo, Jean J; Eggleston, Karen K; Leung, Gabriel M GM
Publication Date: 2021-06

Variant appearance in text: 225: A51A
PubMed Link: 34166382
Variant Present in the following documents:
  • Main text
View BVdb publication page



CXCL10 potentiates immune checkpoint blockade therapy in homologous recombination-deficient tumors.

Theranostics
Shi, Zhiwen Z; Shen, Jianfeng J; Qiu, Junjun J; Zhao, Qingguo Q; Hua, Keqin K; Wang, Hongyan H
Publication Date: 2021

Variant appearance in text: 225: a51a
PubMed Link: 34158843
Variant Present in the following documents:
  • thnov11p7175s1.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: 153C>G
PubMed Link: 33123180
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: 225: 153C>G
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Molecular subtyping of glioblastoma based on immune-related genes for prognosis.

Scientific Reports
Chen, Xueran X; Fan, Xiaoqing X; Zhao, Chenggang C; Zhao, Zhiyang Z; Hu, Lizhu L; Wang, Delong D; Wang, Ruiting R; Fang, Zhiyou Z
Publication Date: 2020-09-23

Variant appearance in text: 225: a51a
PubMed Link: 32968155
Variant Present in the following documents:
  • 41598_2020_72488_MOESM2_ESM.xls, sheet 11
View BVdb publication page



Phylogeny and systematics of the Proterodiplostomidae Dubois, 1936 (Digenea: Diplostomoidea) reflect the complex evolutionary history of the ancient digenean group.

Systematic Parasitology
Tkach, Vasyl V VV; Achatz, Tyler J TJ; Pulis, Eric E EE; Junker, Kerstin K; Snyder, Scott D SD; Bell, Jeffrey A JA; Halajian, Ali A; de Vasconcelos Melo, Francisco Tiago FT
Publication Date: 2020-10

Variant appearance in text: 225: A51A
PubMed Link: 32813221
Variant Present in the following documents:
  • Main text
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: N/A
PubMed Link: 32332752
Variant Present in the following documents:
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: 153C>G
PubMed Link: 32332722
Variant Present in the following documents:
  • 41467_2020_15886_MOESM5_ESM.xlsx, sheet 11
View BVdb publication page



Unidirectional rotating molecular motors dynamically interact with adsorbed proteins to direct the fate of mesenchymal stem cells.

Science Advances
Zhou, Qihui Q; Chen, Jiawen J; Luan, Yafei Y; Vainikka, Petteri A PA; Thallmair, Sebastian S; Marrink, Siewert J SJ; Feringa, Ben L BL; van Rijn, Patrick P
Publication Date: 2020-01

Variant appearance in text: 225: A51A
PubMed Link: 32064345
Variant Present in the following documents:
  • Main text
View BVdb publication page



2018 n2c2 shared task on adverse drug events and medication extraction in electronic health records.

Journal Of The American Medical Informatics Association : Jamia
Henry, Sam S; Buchan, Kevin K; Filannino, Michele M; Stubbs, Amber A; Uzuner, Ozlem O
Publication Date: 2020-01-01

Variant appearance in text: 225: A51A
PubMed Link: 31584655
Variant Present in the following documents:
  • Main text
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: 153C>G
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics
Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C
Publication Date: 2018-07-03

Variant appearance in text: 225: 153C>G
PubMed Link: 29970176
Variant Present in the following documents:
  • 40246_2018_167_MOESM3_ESM.xlsx, sheet 3
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: 153C>G; Ala51Ala
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: Ala51Ala
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The lncRNA landscape of breast cancer reveals a role for DSCAM-AS1 in breast cancer progression.

Nature Communications
Niknafs, Yashar S YS; Han, Sumin S; Ma, Teng T; Speers, Corey C; Zhang, Chao C; Wilder-Romans, Kari K; Iyer, Matthew K MK; Pitchiaya, Sethuramasundaram S; Malik, Rohit R; Hosono, Yasuyuki Y; Prensner, John R JR; Poliakov, Anton A; Singhal, Udit U; Xiao, Lanbo L; Kregel, Steven S; Siebenaler, Ronald F RF; Zhao, Shuang G SG; Uhl, Michael M; Gawronski, Alexander A; Hayes, Daniel F DF; Pierce, Lori J LJ; Cao, Xuhong X; Collins, Colin C; Backofen, Rolf R; Sahinalp, Cenk S CS; Rae, James M JM; Chinnaiyan, Arul M AM; Feng, Felix Y FY
Publication Date: 2016-09-26

Variant appearance in text: 225: a51a
PubMed Link: 27666543
Variant Present in the following documents:
  • ncomms12791-s2.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: A51A
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
View BVdb publication page