Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.E543K
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JAK2

NM_004972.4:p.E543K

Associated Papers

Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.

Olkinuora A et al.

Cancers, 2020

32660107 (PubMed )
Supplement: cancers-12-01853-s001.zip › Supplementary_Files_olkinuora › Table_S2_olkinuora.xlsx › Table_S2

Amino acid residue E543 in JAK2 C618R is a potential therapeutic target for myeloproliferative disorders caused by JAK2 C618R mutation.

Wu QY et al.

Archives of Biochemistry and Biophysics, 2012

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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."