Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A5
Variant:p.D154N
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SLC26A5

NM_198999.3:p.D154N

Associated Papers

The V499G/Y501H mutation impairs fast motor kinetics of prestin and has significance for defining functional independence of individual prestin subunits.

Homma K et al.

The Journal of Biological Chemistry, 2013

Intracellular anions as the voltage sensor of prestin, the outer hair cell motor protein.

Oliver D et al.

Science (new York, N.y.), 2001

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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."