EGR1 c.258C>A ;(p.F86L)

Variant ID: 5-137801708-C-A

NM_001964.2(EGR1):c.258C>A;(p.F86L)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Computational Redesign of an ω-Transaminase from Pseudomonas jessenii for Asymmetric Synthesis of Enantiopure Bulky Amines.

Acs Catalysis
Meng, Qinglong Q; Ramírez-Palacios, Carlos C; Capra, Nikolas N; Hooghwinkel, Mattijs E ME; Thallmair, Sebastian S; Rozeboom, Henriëtte J HJ; Thunnissen, Andy-Mark W H AWH; Wijma, Hein J HJ; Marrink, Siewert J SJ; Janssen, Dick B DB
Publication Date: 2021-09-03

Variant appearance in text: 225: F86L
PubMed Link: 34504735
Variant Present in the following documents:
  • Main text
  • cs1c02053.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: 225: F86L
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM1_ESM.xls, sheet 1
View BVdb publication page



High-density genetic linkage-map construction of hawthorn and QTL mapping for important fruit traits.

Plos One
Zhao, Yuhui Y; Zhao, Yidi Y; Guo, Yinshan Y; Su, Kai K; Shi, Xiaochang X; Liu, Di D; Zhang, Jijun J
Publication Date: 2020

Variant appearance in text: 225: 258C>A
PubMed Link: 32045463
Variant Present in the following documents:
  • pone.0229020.s004.xlsx, sheet 1
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: 258C>A
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: 258C>A
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Modeling cancer driver events in vitro using barrier bypass-clonal expansion assays and massively parallel sequencing.

Oncogene
Huskova, H H; Ardin, M M; Weninger, A A; Vargova, K K; Barrin, S S; Villar, S S; Olivier, M M; Stopka, T T; Herceg, Z Z; Hollstein, M M; Zavadil, J J; Korenjak, M M
Publication Date: 2017-10-26

Variant appearance in text: 225: F86L
PubMed Link: 28692054
Variant Present in the following documents:
  • onc2017215x4.xls, sheet 1
View BVdb publication page



Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)
Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB
Publication Date: 2017-07-05

Variant appearance in text: 225: Phe86Leu
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.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: 258C>A
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
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: F86L
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
View BVdb publication page



Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell
Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R
Publication Date: 2015-09-24

Variant appearance in text: 225: F86L
PubMed Link: 26388441
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Exploring the enantioselective mechanism of halohydrin dehalogenase from Agrobacterium radiobacter AD1 by iterative saturation mutagenesis.

Applied And Environmental Microbiology
Guo, Chao C; Chen, Yanpu Y; Zheng, Yu Y; Zhang, Wei W; Tao, Yunwen Y; Feng, Juan J; Tang, Lixia L
Publication Date: 2015-04

Variant appearance in text: 225: F86L
PubMed Link: 25681194
Variant Present in the following documents:
  • Main text
View BVdb publication page



Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.

Elife
Ju, Young Seok YS; Alexandrov, Ludmil B LB; Gerstung, Moritz M; Martincorena, Inigo I; Nik-Zainal, Serena S; Ramakrishna, Manasa M; Davies, Helen R HR; Papaemmanuil, Elli E; Gundem, Gunes G; Shlien, Adam A; Bolli, Niccolo N; Behjati, Sam S; Tarpey, Patrick S PS; Nangalia, Jyoti J; Massie, Charles E CE; Butler, Adam P AP; Teague, Jon W JW; Vassiliou, George S GS; Green, Anthony R AR; Du, Ming-Qing MQ; Unnikrishnan, Ashwin A; Pimanda, John E JE; Teh, Bin Tean BT; Munshi, Nikhil N; Greaves, Mel M; Vyas, Paresh P; El-Naggar, Adel K AK; Santarius, Tom T; Collins, V Peter VP; Grundy, Richard R; Taylor, Jack A JA; Hayes, D Neil DN; Malkin, David D; , ; , ; , ; Foster, Christopher S CS; Warren, Anne Y AY; Whitaker, Hayley C HC; Brewer, Daniel D; Eeles, Rosalind R; Cooper, Colin C; Neal, David D; Visakorpi, Tapio T; Isaacs, William B WB; Bova, G Steven GS; Flanagan, Adrienne M AM; Futreal, P Andrew PA; Lynch, Andy G AG; Chinnery, Patrick F PF; McDermott, Ultan U; Stratton, Michael R MR; Campbell, Peter J PJ
Publication Date: 2014-10-01

Variant appearance in text: 225: F86L
PubMed Link: 25271376
Variant Present in the following documents:
  • elife02935s002.xlsx, sheet 1
View BVdb publication page