MSH6 c.3101G>C ;(p.R1034P)

Variant ID: 2-48028223-G-C

NM_000179.2(MSH6):c.3101G>C;(p.R1034P)

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: 3101G>C; Arg1034Pro; rs181727939
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

British Journal Of Cancer
Kets, C M CM; van Krieken, J H J M JH; Hebeda, K M KM; Wezenberg, S J SJ; Goossens, M M; Brunner, H G HG; Ligtenberg, M J L MJ; Hoogerbrugge, N N
Publication Date: 2006-12-18

Variant appearance in text: MSH6: 3101G>C; Arg1034Pro
PubMed Link: 17117178
Variant Present in the following documents:
  • Main text
  • 95-6603478a.pdf
View BVdb publication page