MSH6 c.3958G>C ;(p.A1320P)

Variant ID: 2-48033747-G-C

NM_000179.2(MSH6):c.3958G>C;(p.A1320P)

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: 3958G>C; Ala1320Pro
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Massive parallel sequencing in a family with rectal cancer.

Hereditary Cancer In Clinical Practice
Wallander, Karin K; Thutkawkorapin, Jessada J; Sahlin, Ellika E; Lindblom, Annika A; Lagerstedt-Robinson, Kristina K
Publication Date: 2021-04-07

Variant appearance in text: MSH6: 3958G>C
PubMed Link: 33827643
Variant Present in the following documents:
  • 13053_2021_Article_181.pdf
View BVdb publication page