Varaico: Literature-Extracted Genetic Variants

Gene:KRT14

KRT14

650 papers

RefSeq Summary

This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecul...

Pfam Domains

Filamentaa 114–425UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 14

HGNC Previous Symbols

EBS3; EBS4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 663 variants
120 papers
NM_000526.5
p.R125C
c.373C>T
61 papers
NM_000526.5
p.R125H
c.374G>A
34 papers
NM_000526.5
p.R125P
c.374G>C
28 papers
NM_000526.5
p.M119T
c.356T>C
27 papers
NM_000526.5
p.V270M
c.808G>A
23 papers
NM_000526.5
p.A413T
c.1237G>A
22 papers
NM_000526.5
p.R388H
c.1163G>A
21 papers
NM_000526.5
p.N123S
c.368A>G
19 papers
NM_000526.5
p.E138V
c.413A>T
19 papers
NM_000526.5
p.M272T
c.815T>C
19 papers
NM_000526.5
p.Y415H
c.1243T>C
18 papers
NM_000526.5
p.R125S
c.373C>A
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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."