MSH6 c.1696G>A ;(p.G566R)

Variant ID: 2-48026818-G-A

NM_000179.2(MSH6):c.1696G>A;(p.G566R)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


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: Gly566Arg
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: 1696G>A; Gly566Arg; rs63749973
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



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: 1696G>A; Gly566Arg
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: MSH6: G566R
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, sheet 1
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: 1696G>A; Gly566Arg
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: G566R
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: Gly566Arg
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: G566R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

Journal Of Biomedical Science
Terui, Hiroko H; Akagi, Kiwamu K; Kawame, Hiroshi H; Yura, Kei K
Publication Date: 2013-04-28

Variant appearance in text: MSH6: G566R
PubMed Link: 23621914
Variant Present in the following documents:
  • Main text
View BVdb publication page



Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Human Mutation
Kansikas, Minttu M; Kariola, Reetta R; Nyström, Minna M
Publication Date: 2011-01

Variant appearance in text: MSH6: 1696G>A; G566R
PubMed Link: 21120944
Variant Present in the following documents:
  • Main text
  • humu0032-0107.pdf
View BVdb publication page



Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.

Mutation Research
Heinen, Christopher D CD
Publication Date: 2010-11-10

Variant appearance in text: MSH6: G566R
PubMed Link: 19766128
Variant Present in the following documents:
  • Main text
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: G566R
PubMed Link: 18790734
Variant Present in the following documents:
  • Main text
View BVdb publication page



MSH6 missense mutations are often associated with no or low cancer susceptibility.

British Journal Of Cancer
Kariola, R R; Hampel, H H; Frankel, W L WL; Raevaara, T E TE; de la Chapelle, A A; Nyström-Lahti, M M
Publication Date: 2004-10-04

Variant appearance in text: MSH6: G566R
PubMed Link: 15354210
Variant Present in the following documents:
  • Main text
  • 91-6602129a.pdf
View BVdb publication page