MSH6 c.383G>T ;(p.R128L)

Variant ID: 2-48018188-G-T

NM_000179.2(MSH6):c.383G>T;(p.R128L)

This variant was identified in 11 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: 383G>T; Arg128Leu; rs63750143
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: 383G>T; Arg128Leu; rs63750143
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
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: 383G>T; Arg128Leu
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: 383G>T; Arg128Leu
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: R128L
PubMed Link: 28531214
Variant Present in the following documents:
  • Main text
  • pgen.1006765.pdf
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: MSH6: 383G>T; R128L; rs63750143
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
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: R128L
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: R128L
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: 383G>T; R128L
PubMed Link: 21120944
Variant Present in the following documents:
  • Main text
  • humu0032-0107.pdf
View BVdb publication page



DNA binding, nucleotide flipping, and the helix-turn-helix motif in base repair by O6-alkylguanine-DNA alkyltransferase and its implications for cancer chemotherapy.

Dna Repair
Tubbs, Julie L JL; Pegg, Anthony E AE; Tainer, John A JA
Publication Date: 2007-08-01

Variant appearance in text: MSH6: R128L
PubMed Link: 17485252
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: R128L
PubMed Link: 15354210
Variant Present in the following documents:
  • Main text
  • 91-6602129a.pdf
View BVdb publication page