Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: PAH: R86C; rs768320548

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.

Nature Genetics

Krauthammer, Michael M; Kong, Yong Y; Ha, Byung Hak BH; Evans, Perry P; Bacchiocchi, Antonella A; McCusker, James P JP; Cheng, Elaine E; Davis, Matthew J MJ; Goh, Gerald G; Choi, Murim M; Ariyan, Stephan S; Narayan, Deepak D; Dutton-Regester, Ken K; Capatana, Ana A; Holman, Edna C EC; Bosenberg, Marcus M; Sznol, Mario M; Kluger, Harriet M HM; Brash, Douglas E DE; Stern, David F DF; Materin, Miguel A MA; Lo, Roger S RS; Mane, Shrikant S; Ma, Shuangge S; Kidd, Kenneth K KK; Hayward, Nicholas K NK; Lifton, Richard P RP; Schlessinger, Joseph J; Boggon, Titus J TJ; Halaban, Ruth R

Publication Date: 2012-09

Variant appearance in text: PAH: R86C

PubMed Link: 22842228

Variant Present in the following documents:

• NIHMS390374-supplement-1.pdf

View BVdb publication page