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EGR1 c.142_143delinsGA ;(p.F48D)
Variant ID: 5-137801592-TT-GA
NM_001964.2(
EGR1
):c.142_143delinsGA;(p.F48D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07
Variant appearance in text: 225: f48d
PubMed Link:
31925297
Variant Present in the following documents:
42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Alpha-1-antitrypsin: a novel human high temperature requirement protease A1 (HTRA1) substrate in human placental tissue.
Plos One
Frochaux, Violette V; Hildebrand, Diana D; Talke, Anja A; Linscheid, Michael W MW; Schlüter, Hartmut H
Publication Date: 2014
Variant appearance in text: 225: F48D
PubMed Link:
25329061
Variant Present in the following documents:
Main text
View BVdb publication page
Smoking and alcohol consumption patterns among elderly Canadians with mobility disabilities.
Bmc Research Notes
Liu, Fang F; Woodrow, Jennifer J; Loucks-Atkinson, Angela A; Buehler, Sharon S; West, Roy R; Wang, Peizhong Peter PP
Publication Date: 2013-06-04
Variant appearance in text: 225: F48D
PubMed Link:
23731926
Variant Present in the following documents:
1756-0500-6-218-S1.pdf
View BVdb publication page