Varaico: Literature-Extracted Genetic Variants

Gene:KRT6B
Variant:p.E472K
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KRT6B

NM_005555.4:p.E472K

Associated Papers

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

Homozygous dominant missense mutation in Keratin 6b leading to severe pachyonychia congenita.

Mathews J et al.

Clinical and Experimental 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

Revisiting pachyonychia congenita: a case-cohort study of 815 patients.

Samuelov L et al.

The British Journal of Dermatology, 2020

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

Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.

Zieman AG et al.

Human Molecular Genetics, 2019

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

Wilson NJ et al.

The British Journal of Dermatology, 2014

A large mutational study in pachyonychia congenita.

Wilson NJ et al.

The Journal of Investigative Dermatology, 2011

A novel mutation in K6b in pachyonychia congenita type 2.

Sharma VM et al.

The Journal of Investigative Dermatology, 2007

Clinical and pathological features of pachyonychia congenita.

Leachman SA et al.

The Journal of Investigative Dermatology. Symposium Proceedings, 2005

[Pachyonychia congenita type 2 due to mutation in the keratin 6b gene].

Toth GG et al.

Nederlands Tijdschrift Voor Geneeskunde, 2000

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.

Smith FJ et al.

Human Molecular Genetics, 1998

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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."