MSH6 c.3963A>T ;(p.R1321S)

Variant ID: 2-48033752-A-T

NM_000179.2(MSH6):c.3963A>T;(p.R1321S)

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: 3963A>T; Arg1321Ser; rs267608125
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts.

The Ulster Medical Journal
Devlin, Lisa A LA; Graham, Colin A CA; Price, John H JH; Morrison, Patrick J PJ
Publication Date: 2008-01

Variant appearance in text: MSH6: 3963A>T; Arg1321Ser
PubMed Link: 18269114
Variant Present in the following documents:
  • Main text
  • umj7701-025.pdf
View BVdb publication page