Varaico: Literature-Extracted Genetic Variants

Gene:KRT16
Variant:p.N125D

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
Selected Variant
14 papers
NM_005557.4
p.N125D
c.373A>G
Surrounding Variants
29 papers
NM_005557.4
p.N125S
c.374A>G
1 paper
NM_005557.4
p.N125delins
c.373_374delinsGG
1 paper
NM_005557.4
p.L124_N125del1
c.371_373delTGA
6 papers
NM_005557.4
p.L124R
c.371T>G
2 papers
NM_005557.4
p.L124P
c.371T>C
6 papers
NM_005557.4
p.L124H
c.371T>A
1 paper
NM_005557.4
p.D126N
c.376G>A
1 paper
NM_005557.4
p.N123S
c.368A>G
30 papers
NM_005557.4
p.R127C
c.379C>T
10 papers
NM_005557.4
p.R127G
c.379C>G
5 papers
NM_005557.4
p.R127S
c.379C>A
1 paper
NM_005557.4
p.S116_R127delins
c.348_379delinsAA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."