Publications:

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: MSH2: 2540A>G; K847R

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MSH2: K847R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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HDAC6 deacetylates and ubiquitinates MSH2 to maintain proper levels of MutSα.

Molecular Cell

Zhang, Mu M; Xiang, Shengyan S; Joo, Heui-Yun HY; Wang, Lei L; Williams, Kendra A KA; Liu, Wei W; Hu, Chen C; Tong, Dan D; Haakenson, Joshua J; Wang, Chuangui C; Zhang, Shengping S; Pavlovicz, Ryan E RE; Jones, Amanda A; Schmidt, Kristina H KH; Tang, Jinfu J; Dong, Huiqin H; Shan, Bin B; Fang, Bin B; Radhakrishnan, Rangasudhagar R; Glazer, Peter M PM; Matthias, Patrick P; Koomen, John J; Seto, Edward E; Bepler, Gerold G; Nicosia, Santo V SV; Chen, Jiandong J; Li, Chenglong C; Gu, Liya L; Li, Guo-Min GM; Bai, Wenlong W; Wang, Hengbin H; Zhang, Xiaohong X

Publication Date: 2014-07-03

Variant appearance in text: MSH2: K847R

PubMed Link: 24882211

Variant Present in the following documents:

• Main text

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