EGR1 c.910_912delinsTTT ;(p.L304F)

Variant ID: 5-137803048-CTG-TTT

NM_001964.2(EGR1):c.910_912delinsTTT;(p.L304F)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: Leu304Phe
PubMed Link: 33123180
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Lipoxygenase 2 from Cyanothece sp. controls dioxygen insertion by steric shielding and substrate fixation.

Scientific Reports
Newie, Julia J; Neumann, Piotr P; Werner, Martin M; Mata, Ricardo A RA; Ficner, Ralf R; Feussner, Ivo I
Publication Date: 2017-05-18

Variant appearance in text: 225: L304F
PubMed Link: 28522865
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_2153.pdf
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: 225: L304F
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
View BVdb publication page



Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases
Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A
Publication Date: 2015-01

Variant appearance in text: 225: Leu304Phe
PubMed Link: 25568942
Variant Present in the following documents:
  • pntd.0003404.s019.xlsx, sheet 1
View BVdb publication page



Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine
Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P
Publication Date: 2014-09

Variant appearance in text: 225: L304F
PubMed Link: 25333069
Variant Present in the following documents:
  • Main text
View BVdb publication page