MSH6 c.3558_3565del ;(p.E1187Ifs*4)

Variant ID: 2-48032758-GTGAAAGTA-G

NM_000179.2(MSH6):c.3558_3565del;(p.E1187Ifs*4)

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: 3558_3565delTGAAAGTA; Glu1187Ilefs; rs267608108
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease.

British Journal Of Cancer
Pinto, C C; Veiga, I I; Pinheiro, M M; Mesquita, B B; Jeronimo, C C; Sousa, O O; Fragoso, M M; Santos, L L; Moreira-Dias, L L; Baptista, M M; Lopes, C C; Castedo, S S; Teixeira, M R MR
Publication Date: 2006-09-18

Variant appearance in text: MSH6: 3558_3565delTGAAAGTA
PubMed Link: 16940983
Variant Present in the following documents:
  • Main text
  • 95-6603318a.pdf
View BVdb publication page