EGR1 c.94T>C ;(p.Y32H)

Variant ID: 5-137801544-T-C

NM_001964.2(EGR1):c.94T>C;(p.Y32H)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg
Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S
Publication Date: 2022-03

Variant appearance in text: 225: 94T>C
PubMed Link: 35017693
Variant Present in the following documents:
  • 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic alterations and evolution of cell clusters in metastatic invasive micropapillary carcinoma of the breast.

Nature Communications
Shi, Qianqian Q; Shao, Kang K; Jia, Hongqin H; Cao, Boyang B; Li, Weidong W; Dong, Shichen S; Liu, Jian J; Wu, Kailiang K; Liu, Meng M; Liu, Fangfang F; Zhou, Hanlin H; Lv, Jianke J; Gu, Feng F; Li, Luyuan L; Zhu, Shida S; Li, Shuai S; Li, Guibo G; Fu, Li L
Publication Date: 2022-01-10

Variant appearance in text: 225: 94T>C
PubMed Link: 35013309
Variant Present in the following documents:
  • 41467_2021_27794_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genomic alterations and evolution of cell clusters in metastatic invasive micropapillary carcinoma of the breast.

Nature Communications
Shi, Qianqian Q; Shao, Kang K; Jia, Hongqin H; Cao, Boyang B; Li, Weidong W; Dong, Shichen S; Liu, Jian J; Wu, Kailiang K; Liu, Meng M; Liu, Fangfang F; Zhou, Hanlin H; Lv, Jianke J; Gu, Feng F; Li, Luyuan L; Zhu, Shida S; Li, Shuai S; Li, Guibo G; Fu, Li L
Publication Date: 2022-01-10

Variant appearance in text: 225: 94T>C
PubMed Link: 35013309
Variant Present in the following documents:
  • 41467_2021_27794_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



TC10 regulates breast cancer invasion and metastasis by controlling membrane type-1 matrix metalloproteinase at invadopodia.

Communications Biology
Hülsemann, Maren M; Sanchez, Colline C; Verkhusha, Polina V PV; Des Marais, Vera V; Mao, Serena P H SPH; Donnelly, Sara K SK; Segall, Jeffrey E JE; Hodgson, Louis L
Publication Date: 2021-09-16

Variant appearance in text: 225: Y32H
PubMed Link: 34531530
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2583.pdf
View BVdb publication page



Rapid selection of HIV envelopes that bind to neutralizing antibody B cell lineage members with functional improbable mutations.

Cell Reports
Swanson, Olivia O; Rhodes, Brianna B; Wang, Avivah A; Xia, Shi-Mao SM; Parks, Robert R; Chen, Haiyan H; Sanzone, Aja A; Cooper, Melissa M; Louder, Mark K MK; Lin, Bob C BC; Doria-Rose, Nicole A NA; Bonsignori, Mattia M; Saunders, Kevin O KO; Wiehe, Kevin K; Haynes, Barton F BF; Azoitei, Mihai L ML
Publication Date: 2021-08-17

Variant appearance in text: 225: Y32H
PubMed Link: 34407396
Variant Present in the following documents:
  • Main text
View BVdb publication page



The evolving proteome of SARS-CoV-2 predominantly uses mutation combination strategy for survival.

Computational And Structural Biotechnology Journal
Patro, L Ponoop Prasad LPP; Sathyaseelan, Chakkarai C; Uttamrao, Patil Pranita PP; Rathinavelan, Thenmalarchelvi T
Publication Date: 2021

Variant appearance in text: 225: Y32H
PubMed Link: 34109017
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Cancer Science
Yasuda, Takahiko T; Sanada, Masashi M; Nishijima, Dai D; Kanamori, Takashi T; Iijima, Yuka Y; Hattori, Hiroyoshi H; Saito, Akiko A; Miyoshi, Hiroaki H; Ishikawa, Yuichi Y; Asou, Norio N; Usuki, Kensuke K; Hirabayashi, Shinsuke S; Kato, Motohiro M; Ri, Masaki M; Handa, Hiroshi H; Ishida, Tadao T; Shibayama, Hirohiko H; Abe, Masahiro M; Iriyama, Chisako C; Karube, Kennosuke K; Nishikori, Momoko M; Ohshima, Koichi K; Kataoka, Keisuke K; Yoshida, Kenichi K; Shiraishi, Yuichi Y; Goto, Hiroaki H; Adachi, Souichi S; Kobayashi, Ryoji R; Kiyoi, Hitoshi H; Miyazaki, Yasushi Y; Ogawa, Seishi S; Kurahashi, Hiroki H; Yokoyama, Hisayuki H; Manabe, Atsushi A; Iida, Shinsuke S; Tomita, Akihiro A; Horibe, Keizo K
Publication Date: 2020-09

Variant appearance in text: EGR1: Y32H
PubMed Link: 32619037
Variant Present in the following documents:
  • CAS-111-3367-s004.xlsx, sheet 4
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: 94T>C
PubMed Link: 32332722
Variant Present in the following documents:
  • 41467_2020_15886_MOESM5_ESM.xlsx, sheet 11
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: 94T>C
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: 94T>C
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.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: 94T>C
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Structural basis of improved second-generation 3-nitro-tyrosine tRNA synthetases.

Biochemistry
Cooley, Richard B RB; Feldman, Jessica L JL; Driggers, Camden M CM; Bundy, Taylor A TA; Stokes, Audrey L AL; Karplus, P Andrew PA; Mehl, Ryan A RA
Publication Date: 2014-04-01

Variant appearance in text: 225: Tyr32His
PubMed Link: 24611875
Variant Present in the following documents:
  • Main text
  • bi5001239.pdf
View BVdb publication page



Analysis of variants in DNA damage signalling genes in bladder cancer.

Bmc Medical Genetics
Choudhury, Ananya A; Elliott, Faye F; Iles, Mark M MM; Churchman, Michael M; Bristow, Robert G RG; Bishop, D Timothy DT; Kiltie, Anne E AE
Publication Date: 2008-07-18

Variant appearance in text: 225: Tyr32His
PubMed Link: 18638378
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-69.pdf
View BVdb publication page



Long-term circulation of vaccine-derived poliovirus that causes paralytic disease.

Journal Of Virology
Cherkasova, Elena A EA; Korotkova, Ekaterina A EA; Yakovenko, Maria L ML; Ivanova, Olga E OE; Eremeeva, Tatyana P TP; Chumakov, Konstantin M KM; Agol, Vadim I VI
Publication Date: 2002-07

Variant appearance in text: 225: Tyr32His
PubMed Link: 12050392
Variant Present in the following documents:
  • Main text
View BVdb publication page