Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.F24I
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RHO

NM_000539.3:p.F24I

Associated Papers

Single-cysteine substitution mutants at amino acid positions 55-75, the sequence connecting the cytoplasmic ends of helices I and II in rhodopsin: reactivity of the sulfhydryl groups and their derivatives identifies a tertiary structure that changes upon light-activation.

Klein-Seetharaman J et al.

Biochemistry, 1999

Rhodopsin mutants discriminate sites important for the activation of rhodopsin kinase and Gt.

Shi W et al.

The Journal of Biological Chemistry, 1995

Characterization of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Mutations on the cytoplasmic surface affect transducin activation.

Min KC et al.

The Journal of Biological Chemistry, 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."