Varaico: Literature-Extracted Genetic Variants

Gene:KRT6A
Variant:p.Y465H
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KRT6A

NM_005554.4:p.Y465H

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

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

A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita.

Gong L et al.

International Journal of General Medicine, 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

[Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I].

Bai ZL et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009

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

Mutations of KRT6A are more frequent than those of KRT16 in pachyonychia congenita type 1: report of a novel and a recently reported mutation in two unrelated Chinese families.

Bai ZL et al.

The British Journal of Dermatology, 2008

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