EGR1 c.817C>A ;(p.P273T)

Variant ID: 5-137802955-C-A

NM_001964.2(EGR1):c.817C>A;(p.P273T)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Frontiers In Immunology
Batlle-Masó, Laura L; Garcia-Prat, Marina M; Parra-Martínez, Alba A; Franco-Jarava, Clara C; Aguiló-Cucurull, Aina A; Velasco, Pablo P; Antolín, María M; Rivière, Jacques G JG; Martín-Nalda, Andrea A; Soler-Palacín, Pere P; Martínez-Gallo, Mónica M; Colobran, Roger R
Publication Date: 2022

Variant appearance in text: 225: 817C>A
PubMed Link: 36466883
Variant Present in the following documents:
  • Main text
  • fimmu-13-1014984.pdf
View BVdb publication page



TP53 Mutations Identified Using NGS Comprise the Overwhelming Majority of TP53 Disruptions in CLL: Results From a Multicentre Study.

Frontiers In Oncology
Catherwood, Mark A MA; Wren, Dorte D; Chiecchio, Laura L; Cavalieri, Doriane D; Donaldson, David D; Lawless, Sarah S; ElHassadi, Ezzat E; Hayat, Amjad A; Cahill, Mary R MR; O'Shea, Derville D; Sargent, Jeremy J; Stewart, Peter P; Maurya, Manisha M; Quinn, John J; Murphy, Philip P; de Castro, David Gonzalez DG; Mills, Ken K; Cross, Nicholas C P NCP; Forconi, Francesco F; Iyengar, Sunil S; Schuh, Anna A; Thornton, Patrick P
Publication Date: 2022

Variant appearance in text: 225: 817C>A
PubMed Link: 35837095
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



The genomic landscape of pediatric renal cell carcinomas.

Iscience
Beck, Pengbo P; Selle, Barbara B; Madenach, Lukas L; Jones, David T W DTW; Vokuhl, Christian C; Gopisetty, Apurva A; Nabbi, Arash A; Brecht, Ines B IB; Ebinger, Martin M; Wegert, Jenny J; Graf, Norbert N; Gessler, Manfred M; Pfister, Stefan M SM; Jäger, Natalie N
Publication Date: 2022-04-15

Variant appearance in text: 225: P273T
PubMed Link: 35445187
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: 817C>A
PubMed Link: 33123180
Variant Present in the following documents:
  • Table_3.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: 817C>A
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: 817C>A
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page