MSH6 c.2591G>A ;(p.G864E)

Variant ID: 2-48027713-G-A

NM_000179.2(MSH6):c.2591G>A;(p.G864E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MSH6: 2591G>A; Gly864Glu; rs587781306
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Comprehensive genomic profiling of glioblastoma tumors, BTICs, and xenografts reveals stability and adaptation to growth environments.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Shen, Yaoqing Y; Grisdale, Cameron J CJ; Islam, Sumaiya A SA; Bose, Pinaki P; Lever, Jake J; Zhao, Eric Y EY; Grinshtein, Natalie N; Ma, Yussanne Y; Mungall, Andrew J AJ; Moore, Richard A RA; Lun, Xueqing X; Senger, Donna L DL; Robbins, Stephen M SM; Wang, Alice Yijun AY; MacIsaac, Julia L JL; Kobor, Michael S MS; Luchman, H Artee HA; Weiss, Samuel S; Chan, Jennifer A JA; Blough, Michael D MD; Kaplan, David R DR; Cairncross, J Gregory JG; Marra, Marco A MA; Jones, Steven J M SJM
Publication Date: 2019-09-17

Variant appearance in text: MSH6: G864E
PubMed Link: 31471491
Variant Present in the following documents:
  • Main text
View BVdb publication page