Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.A215V
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SH2B3

NM_005475.3:p.A215V

Associated Papers

Germline heterozygous SH2B3 p.Glu78Lys variant: a three-patient case series with myeloproliferative neoplasms.

Iaquinta G et al.

Experimental Hematology, 2026

SH2B3 (Lnk) Mutations in Myeloid Neoplasms: Morphologic Spectrum, Co-Mutation Patterns, and Clinical Correlates.

Tefferi A et al.

American Journal of Hematology, 2025

The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders.

Maslah N et al.

Leukemia, 2017

LNK mutations and myeloproliferative disorders.

McMullin MF et al.

American Journal of Hematology, 2016

12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?

Auburger G et al.

World Journal of Diabetes, 2014

Role of the adaptor protein LNK in normal and malignant hematopoiesis.

Gery S et al.

Oncogene, 2013

SH2B3 (LNK) mutations from myeloproliferative neoplasms patients have mild loss of function against wild type JAK2 and JAK2 V617F.

Koren-Michowitz M et al.

British Journal of Haematology, 2013

The Lnk adaptor protein: a key regulator of normal and pathological hematopoiesis.

Velazquez L

Archivum Immunologiae Et Therapiae Experimentalis, 2012

LNK can also be mutated outside PH and SH2 domains in myeloproliferative neoplasms with and without V617FJAK2 mutation.

Hurtado C et al.

Leukemia Research, 2011

[Classification for myeloproliferative neoplasms and function of novel mutations].

Kirito K

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2011

New mutations and pathogenesis of myeloproliferative neoplasms.

Vainchenker W et al.

Blood, 2011

LNK mutation studies in blast-phase myeloproliferative neoplasms, and in chronic-phase disease with TET2, IDH, JAK2 or MPL mutations.

Pardanani A et al.

Leukemia, 2010

LNK mutations in JAK2 mutation-negative erythrocytosis.

Lasho TL et al.

The New England Journal of Medicine, 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."