MSH6 c.3489A>T ;(p.E1163D)

Variant ID: 2-48032099-A-T

NM_000179.2(MSH6):c.3489A>T;(p.E1163D)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports
Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F
Publication Date: 2022-01-17

Variant appearance in text: MSH6: Glu1163Asp; rs531674673
PubMed Link: 35039564
Variant Present in the following documents:
  • Main text
View BVdb publication page


Germline sequence variants contributing to cancer susceptibility in South African breast cancer patients of African ancestry.

Scientific Reports
Eygelaar, Dewald D; van Rensburg, Elizabeth J EJ; Joubert, Fourie F
Publication Date: 2022-01-17

Variant appearance in text: MSH6: Glu1163Asp; rs531674673
PubMed Link: 35039564
Variant Present in the following documents:
  • Main text
View BVdb publication page


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: 3489A>T; Glu1163Asp; rs531674673
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page