Varaico: Literature-Extracted Genetic Variants

Gene:S1PR2
Variant:p.Y140C
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S1PR2

NM_004230.4:p.Y140C

Associated Papers

Structure of S1PR2-heterotrimeric G13 signaling complex.

Chen H et al.

Science Advances, 2022

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.

Hofrichter MAH et al.

Bmc Medical Genetics, 2018

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.

Santos-Cortez RL et al.

American Journal of Human Genetics, 2016

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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."