Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.N171Y
Back to variants list

KRT6A

NM_005554.4:p.N171Y

Associated Papers

KRT6A Variant Underlies Pachyonychia Congenita: Insights Into Protein Aggregation and PPAR Signaling.

Ren Y et al.

American Journal of Medical Genetics. Part A, 2026

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation.

Harris K et al.

The British Journal of Dermatology, 2012

The molecular basis of human keratin disorders.

Arin MJ

Human Genetics, 2009

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."