EGR1 c.604A>T ;(p.I202F)

Variant ID: 5-137802742-A-T

NM_001964.2(EGR1):c.604A>T;(p.I202F)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: 604A>T
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
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: I202F
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
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: I202F
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 6
View BVdb publication page



Chemical Classes Presenting Novel Antituberculosis Agents Currently in Different Phases of Drug Development: A 2010-2020 Review.

Pharmaceuticals (Basel, Switzerland)
Angula, Klaudia T KT; Legoabe, Lesetja J LJ; Beteck, Richard M RM
Publication Date: 2021-05-13

Variant appearance in text: 225: I202F
PubMed Link: 34068171
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00461.pdf
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: 604A>T
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: 604A>T
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.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: 604A>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: 604A>T
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: 225: 604A>T
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page