Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.N186Y
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KRT2

NM_000423.3:p.N186Y

Associated Papers

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

Superficial epidermolytic ichthyosis caused by a novel KRT2 mutation.

Akasaka E et al.

Journal of Dermatological Science, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
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