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EGR1 c.806C>G ;(p.P269R)
Variant ID: 5-137802944-C-G
NM_001964.2(
EGR1
):c.806C>G;(p.P269R)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.
The Journal Of Clinical Investigation
Li, Chengcheng C; Wilborn, Jackson J; Pittman, Sara S; Daw, Jil J; Alonso-Pérez, Jorge J; Díaz-Manera, Jordi J; Weihl, Conrad C CC; Haller, Gabe G
Publication Date: 2023-06-15
Variant appearance in text: 225: P269R
PubMed Link:
37317968
Variant Present in the following documents:
jci-133-168156-s148.xlsx, sheet 2
View BVdb publication page
K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.
Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31
Variant appearance in text: 225: 806C>G
PubMed Link:
33115981
Variant Present in the following documents:
molce-43-889_Supple.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: 806C>G
PubMed Link:
32332722
Variant Present in the following documents:
41467_2020_15886_MOESM5_ESM.xlsx, sheet 8
View BVdb publication page
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.
Mediators Of Inflammation
Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L
Publication Date: 2019
Variant appearance in text: 225: 806C>G
PubMed Link:
32082075
Variant Present in the following documents:
Main text
MI2019-3293145.pdf
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: 806C>G
PubMed Link:
28202015
Variant Present in the following documents:
12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page