Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A117D
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RHO

NM_000539.3:p.A117D

Associated Papers

Functional interaction of transmembrane helices 3 and 6 in rhodopsin. Replacement of phenylalanine 261 by alanine causes reversion of phenotype of a glycine 121 replacement mutant.

Han M et al.

The Journal of Biological Chemistry, 1996

Changing the location of the Schiff base counterion in rhodopsin.

Zhukovsky EA et al.

Biochemistry, 1992

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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."