Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.M228V
Back to variants list

ACTN2

NM_001103.4:p.M228V

Associated Papers

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.

Kaplan JM et al.

Nature Genetics, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."