EGR1 c.688_690delinsTGT ;(p.G230C)

Variant ID: 5-137802826-GGG-TGT

NM_001964.2(EGR1):c.688_690delinsTGT;(p.G230C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


High-throughput mutagenesis identifies mutations and RNA-binding proteins controlling CD19 splicing and CART-19 therapy resistance.

Nature Communications
Cortés-López, Mariela M; Schulz, Laura L; Enculescu, Mihaela M; Paret, Claudia C; Spiekermann, Bea B; Quesnel-Vallières, Mathieu M; Torres-Diz, Manuel M; Unic, Sebastian S; Busch, Anke A; Orekhova, Anna A; Kuban, Monika M; Mesitov, Mikhail M; Mulorz, Miriam M MM; Shraim, Rawan R; Kielisch, Fridolin F; Faber, Jörg J; Barash, Yoseph Y; Thomas-Tikhonenko, Andrei A; Zarnack, Kathi K; Legewie, Stefan S; König, Julian J
Publication Date: 2022-09-22

Variant appearance in text: 225: G230C
PubMed Link: 36138008
Variant Present in the following documents:
  • 41467_2022_31818_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Embeddings from protein language models predict conservation and variant effects.

Human Genetics
Marquet, Céline C; Heinzinger, Michael M; Olenyi, Tobias T; Dallago, Christian C; Erckert, Kyra K; Bernhofer, Michael M; Nechaev, Dmitrii D; Rost, Burkhard B
Publication Date: 2022-10

Variant appearance in text: 225: G230C
PubMed Link: 34967936
Variant Present in the following documents:
  • 439_2021_2411_MOESM3_ESM.xlsx, sheet 3
  • 439_2021_2411_MOESM3_ESM.xlsx, sheet 27
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: Gly230Cys
PubMed Link: 31708937
Variant Present in the following documents:
  • DataSheet_2.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: Gly230Cys
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



FTD and ALS: a tale of two diseases.

Current Alzheimer Research
Ferrari, R R; Kapogiannis, D D; Huey, E D ED; Momeni, P P
Publication Date: 2011-05

Variant appearance in text: 225: G230C
PubMed Link: 21222600
Variant Present in the following documents:
  • Main text
View BVdb publication page