MSH6 c.862G>T ;(p.E288*)

Variant ID: 2-48025984-G-T

NM_000179.2(MSH6):c.862G>T;(p.E288*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The impact of whole genome and transcriptome analysis (WGTA) on predictive biomarker discovery and diagnostic accuracy of advanced malignancies.

The Journal Of Pathology. Clinical Research
Tessier-Cloutier, Basile B; Grewal, Jasleen K JK; Jones, Martin R MR; Pleasance, Erin E; Shen, Yaoqing Y; Cai, Ellen E; Dunham, Chris C; Hoang, Lynn L; Horst, Basil B; Huntsman, David G DG; Ionescu, Diana D; Karnezis, Anthony N AN; Lee, Anna F AF; Lee, Cheng Han CH; Lee, Tae Hoon TH; Twa, David Dw DD; Mungall, Andrew J AJ; Mungall, Karen K; Naso, Julia R JR; Ng, Tony T; Schaeffer, David F DF; Sheffield, Brandon S BS; Skinnider, Brian B; Smith, Tyler T; Williamson, Laura L; Zhong, Ellia E; Regier, Dean A DA; Laskin, Janessa J; Marra, Marco A MA; Gilks, C Blake CB; Jones, Steven Jm SJ; Yip, Stephen S
Publication Date: 2022-07

Variant appearance in text: MSH6: E288*
PubMed Link: 35257510
Variant Present in the following documents:
  • CJP2-8-395-s002.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.

The Journal Of Clinical Endocrinology And Metabolism
Juhlin, C Christofer CC; Goh, Gerald G; Healy, James M JM; Fonseca, Annabelle L AL; Scholl, Ute I UI; Stenman, Adam A; Kunstman, John W JW; Brown, Taylor C TC; Overton, John D JD; Mane, Shrikant M SM; Nelson-Williams, Carol C; Bäckdahl, Martin M; Suttorp, Anna-Carinna AC; Haase, Matthias M; Choi, Murim M; Schlessinger, Joseph J; Rimm, David L DL; Höög, Anders A; Prasad, Manju L ML; Korah, Reju R; Larsson, Catharina C; Lifton, Richard P RP; Carling, Tobias T
Publication Date: 2015-03

Variant appearance in text: MSH6: Glu288*
PubMed Link: 25490274
Variant Present in the following documents:
  • Main text
View BVdb publication page