MSH6 c.2060G>A ;(p.C687Y)

Variant ID: 2-48027182-G-A

NM_000179.2(MSH6):c.2060G>A;(p.C687Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


De novo missense variants in FBXO11 alter its protein expression and subcellular localization.

Human Molecular Genetics
Gregor, Anne A; Meerbrei, Tanja T; Gerstner, Thorsten T; Toutain, Annick A; Lynch, Sally Ann SA; Stals, Karen K; Maxton, Caroline C; Lemke, Johannes R JR; Bernat, John A JA; Bombei, Hannah M HM; Foulds, Nicola N; Hunt, David D; Kuechler, Alma A; Beygo, Jasmin J; Stöbe, Petra P; Bouman, Arjan A; Palomares-Bralo, Maria M; Santos-Simarro, Fernando F; Garcia-Minaur, Sixto S; Pacio-Miguez, Marta M; Popp, Bernt B; Vasileiou, Georgia G; Hebebrand, Moritz M; Reis, André A; Schuhmann, Sarah S; Krumbiegel, Mandy M; Brown, Natasha J NJ; Sparber, Peter P; Melikyan, Lyusya L; Bessonova, Liudmila L; Cherevatova, Tatiana T; Sharkov, Artem A; Shcherbakova, Natalia N; Dabir, Tabib T; Kini, Usha U; Schwaibold, Eva M C EMC; Haack, Tobias B TB; Bertoli, Marta M; Hoffjan, Sabine S; Falb, Ruth R; Shinawi, Marwan M; Sticht, Heinrich H; Zweier, Christiane C
Publication Date: 2022-02-03

Variant appearance in text: MSH6: 2060G>A
PubMed Link: 34505148
Variant Present in the following documents:
  • table_s3_050721_ddab265.xlsx, sheet 1
View BVdb publication page



De novo missense variants in FBXO11 alter its protein expression and subcellular localization.

Human Molecular Genetics
Gregor, Anne A; Meerbrei, Tanja T; Gerstner, Thorsten T; Toutain, Annick A; Lynch, Sally Ann SA; Stals, Karen K; Maxton, Caroline C; Lemke, Johannes R JR; Bernat, John A JA; Bombei, Hannah M HM; Foulds, Nicola N; Hunt, David D; Kuechler, Alma A; Beygo, Jasmin J; Stöbe, Petra P; Bouman, Arjan A; Palomares-Bralo, Maria M; Santos-Simarro, Fernando F; Garcia-Minaur, Sixto S; Pacio-Miguez, Marta M; Popp, Bernt B; Vasileiou, Georgia G; Hebebrand, Moritz M; Reis, André A; Schuhmann, Sarah S; Krumbiegel, Mandy M; Brown, Natasha J NJ; Sparber, Peter P; Melikyan, Lyusya L; Bessonova, Liudmila L; Cherevatova, Tatiana T; Sharkov, Artem A; Shcherbakova, Natalia N; Dabir, Tabib T; Kini, Usha U; Schwaibold, Eva M C EMC; Haack, Tobias B TB; Bertoli, Marta M; Hoffjan, Sabine S; Falb, Ruth R; Shinawi, Marwan M; Sticht, Heinrich H; Zweier, Christiane C
Publication Date: 2021-09-09

Variant appearance in text: MSH6: 2060G>A
PubMed Link: 34505148
Variant Present in the following documents:
  • table_s3_050721_ddab265.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: C687Y
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Patient-derived Models of Abiraterone- and Enzalutamide-resistant Prostate Cancer Reveal Sensitivity to Ribosome-directed Therapy.

European Urology
Lawrence, Mitchell G MG; Obinata, Daisuke D; Sandhu, Shahneen S; Selth, Luke A LA; Wong, Stephen Q SQ; Porter, Laura H LH; Lister, Natalie N; Pook, David D; Pezaro, Carmel J CJ; Goode, David L DL; Rebello, Richard J RJ; Clark, Ashlee K AK; Papargiris, Melissa M; Van Gramberg, Jenna J; Hanson, Adrienne R AR; Banks, Patricia P; Wang, Hong H; Niranjan, Birunthi B; Keerthikumar, Shivakumar S; Hedwards, Shelley S; Huglo, Alisee A; Yang, Rendong R; Henzler, Christine C; Li, Yingming Y; Lopez-Campos, Fernando F; Castro, Elena E; Toivanen, Roxanne R; Azad, Arun A; Bolton, Damien D; Goad, Jeremy J; Grummet, Jeremy J; Harewood, Laurence L; Kourambas, John J; Lawrentschuk, Nathan N; Moon, Daniel D; Murphy, Declan G DG; Sengupta, Shomik S; Snow, Ross R; Thorne, Heather H; Mitchell, Catherine C; Pedersen, John J; Clouston, David D; Norden, Sam S; Ryan, Andrew A; Dehm, Scott M SM; Tilley, Wayne D WD; Pearson, Richard B RB; Hannan, Ross D RD; Frydenberg, Mark M; Furic, Luc L; Taylor, Renea A RA; Risbridger, Gail P GP
Publication Date: 2018-11

Variant appearance in text: MSH6: C687Y
PubMed Link: 30049486
Variant Present in the following documents:
  • Main text
View BVdb publication page



Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine
Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M
Publication Date: 2017-02-02

Variant appearance in text: MSH6: C687Y
PubMed Link: 28153049
Variant Present in the following documents:
  • Main text
  • 13073_2017_Article_401.pdf
View BVdb publication page