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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MCOLN2

Variant:p.I367T

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MCOLN2

NM_153259.4:p.I367T

hg38:chr1:84939563 A>G

Associated Papers

Cryo-EM structure of mouse TRPML2 in lipid nanodiscs.

Song X et al.

The Journal of Biological Chemistry, 2022

34915027 (PubMed )

Constitutive activity of the human TRPML2 channel induces cell degeneration.

Lev S et al.

The Journal of Biological Chemistry, 2010

19940139 (PubMed )

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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."