MSH6 c.2936T>C ;(p.L979P)

Variant ID: 2-48028058-T-C

NM_000179.2(MSH6):c.2936T>C;(p.L979P)

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: 2936T>C; Leu979Pro
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Npj Precision Oncology
Finkle, Justin D JD; Boulos, Hala H; Driessen, Terri M TM; Lo, Christine C; Blidner, Richard A RA; Hafez, Ashraf A; Khan, Aly A AA; Lozac'hmeur, Ariane A; McKinnon, Kelly E KE; Perera, Jason J; Zhu, Wei W; Dowlati, Afshin A; White, Kevin P KP; Tell, Robert R; Beaubier, Nike N
Publication Date: 2021-07-02

Variant appearance in text: MSH6: Leu979Pro
PubMed Link: 34215841
Variant Present in the following documents:
  • 41698_2021_202_MOESM1_ESM.pdf
View BVdb publication page