Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.A463P
Back to variants list

KRT6A

NM_005554.4:p.A463P

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

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.

Wu TT et al.

The Journal of Investigative Dermatology, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _B__Y2H-SI_disease_mut

The molecular genetic analysis of the expanding pachyonychia congenita case collection.

Wilson NJ et al.

The British Journal of Dermatology, 2014

Novel and recurrent keratin 6A (KRT6A) mutations in Chinese patients with pachyonychia congenita type 1.

Lv YM et al.

The British Journal of Dermatology, 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."