EGR1 c.1432G>T ;(p.G478C)

Variant ID: 5-137803570-G-T

NM_001964.2(EGR1):c.1432G>T;(p.G478C)

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: G478C
PubMed Link: 36138008
Variant Present in the following documents:
  • 41467_2022_31818_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive interrogation of the ADAR2 deaminase domain for engineering enhanced RNA editing activity and specificity.

Elife
Katrekar, Dhruva D; Xiang, Yichen Y; Palmer, Nathan N; Saha, Anushka A; Meluzzi, Dario D; Mali, Prashant P
Publication Date: 2022-01-19

Variant appearance in text: 225: G478C
PubMed Link: 35044296
Variant Present in the following documents:
  • elife-75555-fig1-data1.xlsx, sheet 1
View BVdb publication page



Comprehensive interrogation of the ADAR2 deaminase domain for engineering enhanced RNA editing activity and specificity.

Elife
Katrekar, Dhruva D; Xiang, Yichen Y; Palmer, Nathan N; Saha, Anushka A; Meluzzi, Dario D; Mali, Prashant P
Publication Date: 2022-01-19

Variant appearance in text: 225: G478C
PubMed Link: 35044296
Variant Present in the following documents:
  • elife-75555-fig1-data1.xlsx, sheet 1
View BVdb publication page



Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).

Bmc Medical Genomics
Semyachkina, Alla Nikolaevna AN; Voskoboeva, Elena Yurievna EY; Nikolaeva, Ekaterina Alexandrovna EA; Zakharova, Ekaterina Yurievna EY
Publication Date: 2021-03-06

Variant appearance in text: 225: 1432G>T
PubMed Link: 33676511
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: 1432G>T
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1
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: 1432G>T
PubMed Link: 29679745
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page