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MED23 c.1708T>G ;(p.L570V)
Variant ID: 6-131925366-A-C
NM_004830.3(
MED23
):c.1708T>G;(p.L570V)
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:
Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.
Nature Communications
Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD
Publication Date: 2023-02-11
Variant appearance in text: MED23: 1708T>G; L570V
PubMed Link:
36774361
Variant Present in the following documents:
41467_2023_36462_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022
Variant appearance in text: MED23: 1708T>G; L570V
PubMed Link:
36387164
Variant Present in the following documents:
Table_1.xlsx, sheet 1
View BVdb publication page
Longitudinal profiling of circulating tumour DNA for tracking tumour dynamics in pancreatic cancer.
Bmc Cancer
Sivapalan, Lavanya L; Thorn, Graeme J GJ; Gadaleta, Emanuela E; Kocher, Hemant M HM; Ross-Adams, Helen H; Chelala, Claude C
Publication Date: 2022-04-07
Variant appearance in text: MED23: L570V
PubMed Link:
35392854
Variant Present in the following documents:
12885_2022_9387_MOESM1_ESM.pdf
View BVdb publication page