Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.V1721M
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NOTCH1

NM_017617.5:p.V1721M

Associated Papers

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.

Arniani S et al.

Leukemia, 2022

35974102 (PubMed )
Supplement: 41375_2022_1671_MOESM2_ESM.xlsx › Table_20

JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Bodaar K et al.

Leukemia, 2022

35411095 (PubMed )
Supplement: NIHMS1792675-supplement-Supplementary_Table_2.xlsx › Sheet_1

Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Lundgren S et al.

Leukemia, 2021

33785863 (PubMed )
Supplement: 41375_2021_1231_MOESM4_ESM.xlsx › t_som_AA_healthy

Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.

Burns MA et al.

Leukemia, 2018

29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2

Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Richter-Pechańska P et al.

Blood Cancer Journal, 2017

28157215 (PubMed )
Supplement: bcj20173x11.xlsx › SNVsInDelsCalled_in214Pts

Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome.

Fabbri G et al.

The Journal of Experimental Medicine, 2013

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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."