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: 749G>C; G250A

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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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: HNPCC1: G250A

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

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Establishment and characterization of patient-derived cancer models of malignant peripheral nerve sheath tumors.

Cancer Cell International

Oyama, Rieko R; Kito, Fusako F; Takahashi, Mami M; Hattori, Emi E; Noguchi, Rei R; Takai, Yoko Y; Sakumoto, Marimu M; Qiao, Zhiwei Z; Toki, Shunichi S; Sugawara, Masato M; Tanzawa, Yoshikazu Y; Kobayashi, Eisuke E; Nakatani, Fumihiko F; Iwata, Shintaro S; Yoshida, Akihiko A; Kawai, Akira A; Kondo, Tadashi T

Publication Date: 2020

Variant appearance in text: MSH2: G250A

PubMed Link: 32099531

Variant Present in the following documents:

• 12935_2020_1128_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HNPCC1: G250A

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page