Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.E228K
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JAG1

NM_000214.3:p.E228K

Associated Papers

Structural and functional studies of the EGF20-27 region reveal new features of the human Notch receptor important for optimal activation.

Bo Z et al.

Structure (london, England : 1993), 2024

An N-glycan on the C2 domain of JAGGED1 is important for Notch activation.

Meng Y et al.

Science Signaling, 2022

Functional annotation of rare gene aberration drivers of pancreatic cancer.

Tsang YH et al.

Nature Communications, 2016

26806015 (PubMed )
Supplement: ncomms10500-s2.xls › Sheet1

Frequency and distribution of Notch mutations in tumor cell lines.

Mutvei AP et al.

Bmc Cancer, 2015

25907971 (PubMed )
Supplement: 12885_2015_1278_MOESM2_ESM.xlsx › suppdatagrejen
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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."