Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.T62A
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RHO

NM_000539.3:p.T62A

Associated Papers

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.

Kaukonen M et al.

Genes, 2022

35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S3_gnomAD.xlsx › gnomAD_2022-04-19

Molecular assembly of rhodopsin with G protein-coupled receptor kinases.

He Y et al.

Cell Research, 2017

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

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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."