Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.K191E
Back to variants list

ACTB

NM_001101.5:p.K191E

Associated Papers

Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephaly.

Niehaus I et al.

Embo Reports, 2026

Further delineation of putative ACTB loss-of-function variants: A 4-patient series.

Baumann M et al.

Human Mutation, 2020

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Latham SL et al.

Nature Communications, 2018

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."