MSH6 c.3647G>A ;(p.G1216E)

Variant ID: 2-48033343-G-A

NM_000179.2(MSH6):c.3647G>A;(p.G1216E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.

Neuro-Oncology Advances
Blomquist, Mylan R MR; Ensign, Shannon Fortin SF; D'Angelo, Fulvio F; Phillips, Joanna J JJ; Ceccarelli, Michele M; Peng, Sen S; Halperin, Rebecca F RF; Caruso, Francesca P FP; Garofano, Luciano L; Byron, Sara A SA; Liang, Winnie S WS; Craig, David W DW; Carpten, John D JD; Prados, Michael D MD; Trent, Jeffrey M JM; Berens, Michael E ME; Iavarone, Antonio A; Dhruv, Harshil H; Tran, Nhan L NL
Publication Date: 2020

Variant appearance in text: MSH6: G1216E
PubMed Link: 32743548
Variant Present in the following documents:
  • vdaa078_suppl_supplementary_table_7.xlsx, sheet 1
  • vdaa078_suppl_supplementary_table_4.xlsx, sheet 4
View BVdb publication page



Lynch Syndrome in patients with clear cell and endometrioid cancers of the ovary.

Gynecologic Oncology
Vierkoetter, Koah R KR; Ayabe, Asia R AR; VanDrunen, Maya M; Ahn, Hyeong Jun HJ; Shimizu, David M DM; Terada, Keith Y KY
Publication Date: 2014-10

Variant appearance in text: MSH6: G1216E
PubMed Link: 25093288
Variant Present in the following documents:
  • Main text
View BVdb publication page