Publications:

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology

Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO

Publication Date: 2022-12-22

Variant appearance in text: MSH6: 1723G>T; D575Y

PubMed Link: 36550560

Variant Present in the following documents:

• 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1

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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: 1723G>T; Asp575Tyr; rs863224619

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Comprehensive genomic profiling of glioblastoma tumors, BTICs, and xenografts reveals stability and adaptation to growth environments.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Shen, Yaoqing Y; Grisdale, Cameron J CJ; Islam, Sumaiya A SA; Bose, Pinaki P; Lever, Jake J; Zhao, Eric Y EY; Grinshtein, Natalie N; Ma, Yussanne Y; Mungall, Andrew J AJ; Moore, Richard A RA; Lun, Xueqing X; Senger, Donna L DL; Robbins, Stephen M SM; Wang, Alice Yijun AY; MacIsaac, Julia L JL; Kobor, Michael S MS; Luchman, H Artee HA; Weiss, Samuel S; Chan, Jennifer A JA; Blough, Michael D MD; Kaplan, David R DR; Cairncross, J Gregory JG; Marra, Marco A MA; Jones, Steven J M SJM

Publication Date: 2019-09-17

Variant appearance in text: MSH6: D575Y

PubMed Link: 31471491

Variant Present in the following documents:

• Main text

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: MSH6: D575Y

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page