Varaico: Literature-Extracted Genetic Variants

Gene:LIM2
Variant:p.R129C
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LIM2

NM_001161748.2:p.R129C

Associated Papers

A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.

Berry V et al.

Ophthalmic Genetics, 2022

Mutations in the Trp-Ser-X-Trp-Ser motif of the erythropoietin receptor abolish processing, ligand binding, and activation of the receptor.

Yoshimura A et al.

The Journal of Biological Chemistry, 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."