Varaico: Literature-Extracted Genetic Variants

Gene:LORICRIN
Variant:p.G182_G183insFs
Back to variants list

LORICRIN

NM_000427.3:p.G182_G183insFs

Associated Papers

A rare case of LORICRIN gene c.684dup mutation associated with Vohwinkel syndrome in a Turkish patient, in silico analysis and literature review.

Yavas C et al.

Molecular Biology Reports, 2025

Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype.

Rorke EA et al.

The Journal of Investigative Dermatology, 2015

Collodion baby and loricrin keratoderma: a case report and mutation analysis.

Yeh JM et al.

Clinical and Experimental Dermatology, 2013

A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma.

Song S et al.

The British Journal of Dermatology, 2008

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."