MSH6 c.3400G>C ;(p.G1134R)

Variant ID: 2-48030786-G-C

NM_000179.2(MSH6):c.3400G>C;(p.G1134R)

This variant was identified in 4 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: 3400G>C; Gly1134Arg
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: MSH6: 3400G>C; G1134R
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
View BVdb publication page



Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget
Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-01-31

Variant appearance in text: MSH6: G1134R
PubMed Link: 28002797
Variant Present in the following documents:
  • oncotarget-08-7852-s002.xlsx, sheet 13
View BVdb publication page



Clonal architectures and driver mutations in metastatic melanomas.

Plos One
Ding, Li L; Kim, Minjung M; Kanchi, Krishna L KL; Dees, Nathan D ND; Lu, Charles C; Griffith, Malachi M; Fenstermacher, David D; Sung, Hyeran H; Miller, Christopher A CA; Goetz, Brian B; Wendl, Michael C MC; Griffith, Obi O; Cornelius, Lynn A LA; Linette, Gerald P GP; McMichael, Joshua F JF; Sondak, Vernon K VK; Fields, Ryan C RC; Ley, Timothy J TJ; Mulé, James J JJ; Wilson, Richard K RK; Weber, Jeffrey S JS
Publication Date: 2014

Variant appearance in text: MSH6: G1134R
PubMed Link: 25393105
Variant Present in the following documents:
  • Main text
  • pone.0111153.pdf
View BVdb publication page