Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.S646P
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JAK1

NM_002227.4:p.S646P

Associated Papers

Venetoclax durable response in adult relapsed/refractory Philadelphia-negative acute lymphoblastic leukemia with JAK/STAT pathway alterations.

Ferrari A et al.

Frontiers in Cell and Developmental Biology, 2023

Systemic Jak1 activation causes extrarenal calcitriol production and skeletal alterations provoking stunted growth.

Fuente R et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021

Identification of a novel functional JAK1 S646P mutation in acute lymphoblastic leukemia.

Li Q et al.

Oncotarget, 2017

Cooperating JAK1 and JAK3 mutants increase resistance to JAK inhibitors.

Springuel L et al.

Blood, 2014

Transforming JAK1 mutations exhibit differential signalling, FERM domain requirements and growth responses to interferon-γ.

Gordon GM et al.

The Biochemical Journal, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."