Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.C1189R
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KMT2A

NM_001197104.2:p.C1189R

Associated Papers

Elucidating the role of MLL1 nsSNPs: Structural and functional alterations and their contribution to leukemia development.

Al-Nakhle HH et al.

Plos One, 2024

Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.

Reynisdottir T et al.

Plos Genetics, 2022

35727845 (PubMed )
Supplement: pgen.1010278.s007.pdf

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
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