EGR1 c.620C>T ;(p.P207L)

Variant ID: 5-137802758-C-T

NM_001964.2(EGR1):c.620C>T;(p.P207L)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Helical ultrastructure of the metalloprotease meprin α in complex with a small molecule inhibitor.

Nature Communications
Bayly-Jones, Charles C; Lupton, Christopher J CJ; Fritz, Claudia C; Venugopal, Hariprasad H; Ramsbeck, Daniel D; Wermann, Michael M; Jäger, Christian C; de Marco, Alex A; Schilling, Stephan S; Schlenzig, Dagmar D; Whisstock, James C JC
Publication Date: 2022-10-19

Variant appearance in text: 225: 620C>T
PubMed Link: 36261433
Variant Present in the following documents:
  • 41467_2022_33893_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience
Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X
Publication Date: 2022-09-16

Variant appearance in text: 225: 620C>T
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.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: 620C>T
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Cross-sectional genomic perspective of epidemic waves of SARS-CoV-2: A pan India study.

Virus Research
Kumar, Sanjeet S; Bansal, Kanika K
Publication Date: 2021-11-22

Variant appearance in text: 225: P207L
PubMed Link: 34822953
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Cross-sectional genomic perspective of epidemic waves of SARS-CoV-2: A pan India study.

Virus Research
Kumar, Sanjeet S; Bansal, Kanika K
Publication Date: 2022-01-15

Variant appearance in text: 225: P207L
PubMed Link: 34822953
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Association of common gene-smoking interactions with elevated plasma apolipoprotein B concentration.

Lipids In Health And Disease
Roy, Nathalie N; Gaudet, Daniel D; Tremblay, Gérald G; Brisson, Diane D
Publication Date: 2020-05-19

Variant appearance in text: 225: P207L
PubMed Link: 32430061
Variant Present in the following documents:
  • 12944_2020_Article_1287.pdf
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: 620C>T
PubMed Link: 29679745
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: 225: 620C>T
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.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: 620C>T
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial.

Gene Therapy
Gaudet, D D; Méthot, J J; Déry, S S; Brisson, D D; Essiembre, C C; Tremblay, G G; Tremblay, K K; de Wal, J J; Twisk, J J; van den Bulk, N N; Sier-Ferreira, V V; van Deventer, S S
Publication Date: 2013-04

Variant appearance in text: 225: P207L
PubMed Link: 22717743
Variant Present in the following documents:
  • Main text
  • nihms4055.pdf
View BVdb publication page



Interactions of the apolipoprotein C-III 3238C>G polymorphism and alcohol consumption on serum triglyceride levels.

Lipids In Health And Disease
Ruixing, Yin Y; Yiyang, Li L; Meng, Li L; Kela, Li L; Xingjiang, Long L; Lin, Zhang Z; Wanying, Liu L; Jinzhen, Wu W; Dezhai, Yang Y; Weixiong, Lin L
Publication Date: 2010-08-17

Variant appearance in text: 225: P207L
PubMed Link: 20716347
Variant Present in the following documents:
  • 1476-511X-9-86.pdf
View BVdb publication page