MSH6 c.3499C>T ;(p.L1167F)

Variant ID: 2-48032109-C-T

NM_000179.2(MSH6):c.3499C>T;(p.L1167F)

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: 3499C>T; Leu1167Phe
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Alteration of DNA mismatch repair capacity underlying the co-occurrence of non-small-cell lung cancer and nonmedullary thyroid cancer.

Scientific Reports
Fujita, Shiro S; Masago, Katsuhiro K
Publication Date: 2021-02-11

Variant appearance in text: MSH6: 3499C>T; Leu1167Phe
PubMed Link: 33574476
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_83177.pdf
View BVdb publication page