MSH6 c.2725_2729del ;(p.L909Pfs*7)

Variant ID: 2-48027843-AGAATT-A

NM_000179.2(MSH6):c.2725_2729del;(p.L909Pfs*7)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance
Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM
Publication Date: 2022-09

Variant appearance in text: MSH6: 2725_2729del
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS5.xlsx, sheet 2
  • LSA-2021-01319_TableS1.xlsx, sheet 1
  • LSA-2021-01319_TableS3.xlsx, sheet 1
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: 2725_2729delTTGAA; Leu909Profs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page