EGR1 c.151_152delinsCA ;(p.A51H)

Variant ID: 5-137801601-GC-CA

NM_001964.2(EGR1):c.151_152delinsCA;(p.A51H)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Deep learning model accurately classifies metastatic tumors from primary tumors based on mutational signatures.

Scientific Reports
Zheng, Weisheng W; Pu, Mengchen M; Li, Xiaorong X; Du, Zhaolan Z; Jin, Sutong S; Li, Xingshuai X; Zhou, Jielong J; Zhang, Yingsheng Y
Publication Date: 2023-05-30

Variant appearance in text: 225: A51H
PubMed Link: 37253775
Variant Present in the following documents:
  • 41598_2023_35842_MOESM8_ESM.xlsx, sheet 2
  • 41598_2023_35842_MOESM8_ESM.xlsx, sheet 4
View BVdb publication page



Two subtypes of cutaneous melanoma with distinct mutational signatures and clinico-genomic characteristics.

Frontiers In Genetics
Kim, Yoon-Seob YS; Lee, Minho M; Chung, Yeun-Jun YJ
Publication Date: 2022

Variant appearance in text: 225: A51H
PubMed Link: 36246650
Variant Present in the following documents:
  • DataSheet2.xlsx, sheet 3
View BVdb publication page



A platform for oncogenomic reporting and interpretation.

Nature Communications
Reisle, Caralyn C; Williamson, Laura M LM; Pleasance, Erin E; Davies, Anna A; Pellegrini, Brayden B; Bleile, Dustin W DW; Mungall, Karen L KL; Chuah, Eric E; Jones, Martin R MR; Ma, Yussanne Y; Lewis, Eleanor E; Beckie, Isaac I; Pham, David D; Matiello Pletz, Raphael R; Muhammadzadeh, Amir A; Pierce, Brandon M BM; Li, Jacky J; Stevenson, Ross R; Wong, Hansen H; Bailey, Lance L; Reisle, Abbey A; Douglas, Matthew M; Bonakdar, Melika M; Nelson, Jessica M T JMT; Grisdale, Cameron J CJ; Krzywinski, Martin M; Fisic, Ana A; Mitchell, Teresa T; Renouf, Daniel J DJ; Yip, Stephen S; Laskin, Janessa J; Marra, Marco A MA; Jones, Steven J M SJM
Publication Date: 2022-02-09

Variant appearance in text: 225: A51H
PubMed Link: 35140225
Variant Present in the following documents:
  • 41467_2022_28348_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



The spliceosome pathway activity correlates with reduced anti-tumor immunity and immunotherapy response, and unfavorable clinical outcomes in pan-cancer.

Computational And Structural Biotechnology Journal
Chen, Zuobing Z; Chen, Canping C; Li, Lin L; Zhang, Tianfang T; Wang, Xiaosheng X
Publication Date: 2021

Variant appearance in text: 225: A51H
PubMed Link: 34667536
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Long noncoding RNA SNHG1 promotes TERT expression by sponging miR-18b-5p in breast cancer.

Cell & Bioscience
Kang, Yujuan Y; Wan, Lin L; Wang, Qin Q; Yin, Yanling Y; Liu, Jiena J; Liu, Lei L; Wu, Hao H; Zhang, Lei L; Zhang, Xin X; Xu, Shouping S; Pang, Da D
Publication Date: 2021-08-31

Variant appearance in text: 225: A51H
PubMed Link: 34465388
Variant Present in the following documents:
  • 13578_2021_675_MOESM4_ESM.pdf
View BVdb publication page



Genomic analysis of the prognostic effect of tumor-associated neutrophil-related genes across 15 solid cancer types: an immune perspective.

Annals Of Translational Medicine
Hao, Yuying Y; Hu, Pingping P; Zhang, Jiandong J
Publication Date: 2020-11

Variant appearance in text: 225: A51H
PubMed Link: 33313252
Variant Present in the following documents:
  • atm-08-22-1507-supplementary.pdf
View BVdb publication page



The mutational landscape of melanoma brain metastases presenting as the first visceral site of recurrence.

British Journal Of Cancer
Rabbie, Roy R; Ferguson, Peter P; Wong, Kim K; Couturier, Dominique-Laurent DL; Moran, Una U; Turner, Clinton C; Emanuel, Patrick P; Haas, Kerstin K; Saunus, Jodi M JM; Davidson, Morgan R MR; Lakhani, Sunil R SR; Shivalingam, Brindha B; Long, Georgina V GV; Parkinson, Christine C; Osman, Iman I; Scolyer, Richard A RA; Corrie, Pippa P; Adams, David J DJ
Publication Date: 2021-01

Variant appearance in text: 225: A51H
PubMed Link: 33024263
Variant Present in the following documents:
  • 41416_2020_1090_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Interplay between DNA damage repair and apoptosis shapes cancer evolution through aneuploidy and microsatellite instability.

Nature Communications
Auslander, Noam N; Wolf, Yuri I YI; Koonin, Eugene V EV
Publication Date: 2020-03-06

Variant appearance in text: 225: A51H
PubMed Link: 32144251
Variant Present in the following documents:
  • 41467_2020_15094_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer.

Scientific Reports
Fan, Yu Y; Hu, Yu Y; Yan, Cheng C; Goldman, Radoslav R; Pan, Yang Y; Mazumder, Raja R; Dingerdissen, Hayley M HM
Publication Date: 2018-03-12

Variant appearance in text: 225: A51H
PubMed Link: 29531238
Variant Present in the following documents:
  • 41598_2018_22345_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Mutation Clusters from Cancer Exome.

Genes
Kakushadze, Zura Z; Yu, Willie W
Publication Date: 2017-08-15

Variant appearance in text: 225: A51H
PubMed Link: 28809811
Variant Present in the following documents:
  • Main text
View BVdb publication page