EGR1 c.386C>T ;(p.P129L)

Variant ID: 5-137802524-C-T

NM_001964.2(EGR1):c.386C>T;(p.P129L)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: 225: 386C>T
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Distribution of intra-host variations and mutations in the genomes of SARS-CoV-2 and their implications on detection and therapeutics.

Medcomm
Xiong, Dongyan D; Zhang, Xiaoxu X; Yu, Junping J; Wei, Hongping H
Publication Date: 2022-12

Variant appearance in text: 225: P129L
PubMed Link: 36474856
Variant Present in the following documents:
  • MCO2-3-e186-s002.xlsx, sheet 1
View BVdb publication page



A multi-population-based genomic analysis uncovers unique haplotype variants and crucial mutant genes in SARS-CoV-2.

Journal, Genetic Engineering & Biotechnology
Sheikh, Afzal A; Huang, He H; Parvin, Sultana S; Badruzzaman, Mohammad M; Ahamed, Tofayel T; Hossain, Ekhtear E; Baran, Iri Sato IS; Saud, Zahangir Alam ZA
Publication Date: 2022-11-01

Variant appearance in text: 225: P129L
PubMed Link: 36318347
Variant Present in the following documents:
  • 43141_2022_431_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A comprehensive in silico exploration of the impacts of missense variants on two different conformations of human pirin protein.

Bulletin Of The National Research Centre
Khan, Auroni Semonti AS; Parvez, Nahid N; Ahsan, Tamim T; Shoily, Sabrina Samad SS; Sajib, Abu Ashfaqur AA
Publication Date: 2022

Variant appearance in text: 225: P129L
PubMed Link: 35967515
Variant Present in the following documents:
  • 42269_2022_Article_917.pdf
View BVdb publication page



Mutational cascade of SARS-CoV-2 leading to evolution and emergence of omicron variant.

Virus Research
Bansal, Kanika K; Kumar, Sanjeet S
Publication Date: 2022-07-02

Variant appearance in text: 225: P129L
PubMed Link: 35367284
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
  • mmc1.xlsx, sheet 6
View BVdb publication page



Phylogenetic analysis of 17271 Indian SARS-CoV-2 genomes to identify temporal and spatial hotspot mutations.

Plos One
Ghosh, Nimisha N; Nandi, Suman S; Saha, Indrajit I
Publication Date: 2022

Variant appearance in text: 225: P129L
PubMed Link: 35344550
Variant Present in the following documents:
  • Main text
  • pone.0265579.pdf
View BVdb publication page



Developing an Amplification Refractory Mutation System-Quantitative Reverse Transcription-PCR Assay for Rapid and Sensitive Screening of SARS-CoV-2 Variants of Concern.

Microbiology Spectrum
Xiong, Dongyan D; Zhang, Xiaoxu X; Shi, Mengjuan M; Wang, Nuo N; He, Ping P; Dong, Zhuo Z; Zhong, Jie J; Luo, Jing J; Wang, Yong Y; Yu, Junping J; Wei, Hongping H
Publication Date: 2022-02-23

Variant appearance in text: 225: P129L
PubMed Link: 34985323
Variant Present in the following documents:
  • spectrum01438-21_supp_1_seq8.xlsx, sheet 1
  • spectrum01438-21_supp_1_seq8.xlsx, sheet 2
View BVdb publication page



Hotspot Mutations in SARS-CoV-2.

Frontiers In Genetics
Saha, Indrajit I; Ghosh, Nimisha N; Sharma, Nikhil N; Nandi, Suman S
Publication Date: 2021

Variant appearance in text: 225: P129L
PubMed Link: 34912372
Variant Present in the following documents:
  • DataSheet1.pdf
View BVdb publication page



Cross-sectional genomic perspective of epidemic waves of SARS-CoV-2: A pan India study.

Virus Research
Kumar, Sanjeet S; Bansal, Kanika K
Publication Date: 2022-01-15

Variant appearance in text: 225: P129L
PubMed Link: 34822953
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Cross-sectional genomic perspective of epidemic waves of SARS-CoV-2: A pan India study.

Virus Research
Kumar, Sanjeet S; Bansal, Kanika K
Publication Date: 2021-11-22

Variant appearance in text: 225: P129L
PubMed Link: 34822953
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
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: 386C>T
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, 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: 386C>T
PubMed Link: 33123180
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Mapping the spreading routes of lymphatic metastases in human colorectal cancer.

Nature Communications
Zhang, Chong C; Zhang, Lin L; Xu, Tianlei T; Xue, Ruidong R; Yu, Liang L; Zhu, Yuelu Y; Wu, Yunlong Y; Zhang, Qingqing Q; Li, Dongdong D; Shen, Shuohao S; Tan, Dongfeng D; Bai, Fan F; Zhang, Haizeng H
Publication Date: 2020-04-24

Variant appearance in text: 225: 386C>T
PubMed Link: 32332722
Variant Present in the following documents:
  • 41467_2020_15886_MOESM5_ESM.xlsx, sheet 5
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: 225: 386C>T
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
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: P129L
PubMed Link: 28692054
Variant Present in the following documents:
  • onc2017215x4.xls, 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: 386C>T
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: P129L
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



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: 225: P129L
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page