MSH6 c.3083C>G ;(p.S1028*)

Variant ID: 2-48028205-C-G

NM_000179.2(MSH6):c.3083C>G;(p.S1028*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MSH6: 3083C>G; Ser1028Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 3083C>G; Ser1028Ter
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Postmortem Somatic Sequencing of Tumors From Patients With Suspected Lynch Syndrome Has Clinical Utility for Surviving Relatives.

Jco Precision Oncology
Byers, Heather M HM; Jacobson, Angela A; McFaddin, Andrew S AS; Ussakli, Cigdem H CH; Newlin, Anna A; Stanich, Peter P PP; More, Stephanie S; Hamblett, Amanda A; Tait, Jonathan F JF; Shirts, Brian B; Pritchard, Colin C CC; Konnick, Eric Q EQ; Lockwood, Christina M CM
Publication Date: 2018

Variant appearance in text: MSH6: S1028X
PubMed Link: 32913991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A.

Plos One
Price, Jessica C JC; Pollock, Lana M LM; Rudd, Meghan L ML; Fogoros, Sarah K SK; Mohamed, Hassan H; Hanigan, Christin L CL; Le Gallo, Matthieu M; , ; Zhang, Suiyuan S; Cruz, Pedro P; Cherukuri, Praveen F PF; Hansen, Nancy F NF; McManus, Kirk J KJ; Godwin, Andrew K AK; Sgroi, Dennis C DC; Mullikin, James C JC; Merino, Maria J MJ; Hieter, Philip P; Bell, Daphne W DW
Publication Date: 2014

Variant appearance in text: MSH6: S1028X
PubMed Link: 23755103
Variant Present in the following documents:
  • pone.0063313.s011.xlsx, sheet 1
View BVdb publication page



Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.

Nature Genetics
Le Gallo, Matthieu M; O'Hara, Andrea J AJ; Rudd, Meghan L ML; Urick, Mary Ellen ME; Hansen, Nancy F NF; O'Neil, Nigel J NJ; Price, Jessica C JC; Zhang, Suiyuan S; England, Bryant M BM; Godwin, Andrew K AK; Sgroi, Dennis C DC; , ; Hieter, Philip P; Mullikin, James C JC; Merino, Maria J MJ; Bell, Daphne W DW
Publication Date: 2012-12

Variant appearance in text: MSH6: S1028X
PubMed Link: 23104009
Variant Present in the following documents:
  • NIHMS412622-supplement-5.xls, sheet 1
View BVdb publication page