Varaico: Literature-Extracted Genetic Variants

Gene:KRT16

KRT16

275 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided...

Pfam Domains

Filamentaa 116–427UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 16

HGNC Alias Symbol

NEPPK

Papers
RefSeq ID
Protein change
DNA change
1–12 of 518 variants
30 papers
NM_005557.4
p.R127C
c.379C>T
29 papers
NM_005557.4
p.N125S
c.374A>G
18 papers
NM_005557.4
p.L132P
c.395T>C
15 papers
NM_005557.4
p.R127P
c.380G>C
14 papers
NM_005557.4
p.N125D
c.373A>G
13 papers
NM_005557.4
p.K354N
c.1062A>T
12 papers
NM_005557.4
p.K354N
c.1062A>C
10 papers
NM_005557.4
p.R127G
c.379C>G
6 papers
NM_005557.4
p.L124R
c.371T>G
6 papers
NM_005557.4
p.L124H
c.371T>A
6 papers
NM_005557.4
p.R127H
c.380G>A
6 papers
NM_005557.4
p.L128P
c.383T>C
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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."