Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.S85T
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INS

NM_000207.3:p.S85T

Associated Papers

Mutation of arginine 86 to proline in the insulin receptor alpha subunit causes lack of transport of the receptor to the plasma membrane, loss of binding affinity and a constitutively activated tyrosine kinase in transfected cells.

Grønskov K et al.

Biochemical and Biophysical Research Communications, 1993

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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."