Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.R196R
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ACTB

NM_001101.5:p.R196R

Associated Papers

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1

Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.

Engeli RT et al.

The Journal of Sexual Medicine, 2017

Neurotoxicity of domoic Acid in cerebellar granule neurons in a genetic model of glutathione deficiency.

Giordano G et al.

Molecular Pharmacology, 2006

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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."