Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA3
Variant:p.R383W
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RPS6KA3

NM_004586.3:p.R383W

Associated Papers

Gene Expression and Mutational Profile in BAP-1 Inactivated Melanocytic Lesions of Progressive Malignancy from a Patient with Multiple Lesions.

Zhou Y et al.

Genes, 2021

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.

Zeniou M et al.

American Journal of Human Genetics, 2002

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

Delaunoy J et al.

Human Mutation, 2001

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.

Merienne K et al.

Nature Genetics, 1999

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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."