Varaico: Literature-Extracted Genetic Variants

Gene:TRPV5
Variant:p.L200*
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TRPV5

NM_019841.7:p.L200*

Associated Papers

The identification of Histidine 712 as a critical residue for constitutive TRPV5 internalization.

de Groot T et al.

The Journal of Biological Chemistry, 2010

Functional expression of the epithelial Ca(2+) channels (TRPV5 and TRPV6) requires association of the S100A10-annexin 2 complex.

van de Graaf SF et al.

The Embo Journal, 2003

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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."