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: JAK2: Y317H; rs758780829

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

JAK2 Alterations in Acute Lymphoblastic Leukemia: Molecular Insights for Superior Precision Medicine Strategies.

Frontiers In Cell And Developmental Biology

Downes, Charlotte Ej CE; McClure, Barbara J BJ; McDougal, Daniel P DP; Heatley, Susan L SL; Bruning, John B JB; Thomas, Daniel D; Yeung, David T DT; White, Deborah L DL

Publication Date: 2022

Variant appearance in text: JAK2: Y317H

PubMed Link: 35903543

Variant Present in the following documents:

• fcell-10-942053.pdf

View BVdb publication page

Identification of a JAK2 FERM Domain Variant Associated With Hereditary Thrombocytosis.

Hemasphere

Müller, Jan J; Porret, Naomi Azur NA; Rüfer, Axel A

Publication Date: 2021-08

Variant appearance in text: JAK2: Y317H

PubMed Link: 34350386

Variant Present in the following documents:

• Main text
• hs9-5-e626.pdf

View BVdb publication page

p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation.

Haematologica

Eder-Azanza, Laura L; Hurtado, Cristina C; Navarro-Herrera, David D; Aranaz, Paula P; Novo, Francisco J FJ; Vizmanos, José L JL

Publication Date: 2017-08

Variant appearance in text: JAK2: Y317H

PubMed Link: 28473624

Variant Present in the following documents:

• Main text

View BVdb publication page