MSH6 c.854G>T ;(p.S285I)

Variant ID: 2-48025976-G-T

NM_000179.2(MSH6):c.854G>T;(p.S285I)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: MSH6: 854G>T; Ser285Ile; rs63750878
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

International Journal Of Molecular Sciences
Frederiksen, Jane H JH; Jensen, Sara B SB; Tümer, Zeynep Z; Hansen, Thomas V O TVO
Publication Date: 2021-08-11

Variant appearance in text: MSH6: Ser285Ile
PubMed Link: 34445333
Variant Present in the following documents:
  • Main text
  • ijms-22-08627.pdf
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: 854G>T; Ser285Ile; rs63750878
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



The functional landscape of the human phosphoproteome.

Nature Biotechnology
Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P
Publication Date: 2020-03

Variant appearance in text: MSH6: 854G>T; Ser285Ile
PubMed Link: 31819260
Variant Present in the following documents:
  • EMS84831-supplement-Table_S5.xlsx, sheet 1
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MSH6: 854G>T; Ser285Ile
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MSH6: 854G>T; Ser285Ile
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Plos Genetics
Houlleberghs, Hellen H; Goverde, Anne A; Lusseveld, Jarnick J; Dekker, Marleen M; Bruno, Marco J MJ; Menko, Fred H FH; Mensenkamp, Arjen R AR; Spaander, Manon C W MCW; Wagner, Anja A; Hofstra, Robert M W RMW; Te Riele, Hein H
Publication Date: 2017-05

Variant appearance in text: MSH6: S285I
PubMed Link: 28531214
Variant Present in the following documents:
  • Main text
  • pgen.1006765.pdf
View BVdb publication page



The neXtProt knowledgebase on human proteins: 2017 update.

Nucleic Acids Research
Gaudet, Pascale P; Michel, Pierre-André PA; Zahn-Zabal, Monique M; Britan, Aurore A; Cusin, Isabelle I; Domagalski, Marcin M; Duek, Paula D PD; Gateau, Alain A; Gleizes, Anne A; Hinard, Valérie V; Rech de Laval, Valentine V; Lin, JinJin J; Nikitin, Frederic F; Schaeffer, Mathieu M; Teixeira, Daniel D; Lane, Lydie L; Bairoch, Amos A
Publication Date: 2017-01-04

Variant appearance in text: MSH6: Ser285Ile
PubMed Link: 27899619
Variant Present in the following documents:
  • Main text
  • gkw1062.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MSH6: S285I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Cooperative nuclear localization sequences lend a novel role to the N-terminal region of MSH6.

Plos One
Gassman, Natalie R NR; Clodfelter, Jill E JE; McCauley, Anita K AK; Bonin, Keith K; Salsbury, Freddie R FR; Scarpinato, Karin D KD
Publication Date: 2011-03-17

Variant appearance in text: MSH6: S285I
PubMed Link: 21437237
Variant Present in the following documents:
  • Main text
  • pone.0017907.pdf
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: MSH6: S285I
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 1
View BVdb publication page



Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.

The Journal Of Biological Chemistry
Cyr, Jennifer L JL; Heinen, Christopher D CD
Publication Date: 2008-11-14

Variant appearance in text: MSH6: S285I
PubMed Link: 18790734
Variant Present in the following documents:
  • Main text
View BVdb publication page