Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN1
Variant:p.Y254F
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MCOLN1

NM_020533.3:p.Y254F

Associated Papers

Phi 29 DNA polymerase active site. Mutants in conserved residues Tyr254 and Tyr390 are affected in dNTP binding.

Blasco MA et al.

The Journal of Biological Chemistry, 1992

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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."