Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.N256S

KRT2

149 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpre...

Pfam Domains

Keratin_2_headaa 21–174UCSCKeratin type II head
Filamentaa 177–490UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 2

HGNC Previous Symbol

KRT2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000423.3
p.N256S
c.767A>G
Surrounding Variants
1 paper
NM_000423.3
p.D259Y
c.775G>T
1 paper
NM_000423.3
p.S249P
c.745T>C
1 paper
NM_000423.3
p.Y264C
c.791A>G
1 paper
NM_000423.3
p.N224delFs
c.670_671delTT
1 paper
NM_000423.3
p.G219D
c.656G>A
1 paper
NM_000423.3
p.V196G
c.587T>G
1 paper
NM_000423.3
p.K267Q
c.799A>C
1 paper
NM_000423.3
p.E269A
c.806A>C
1 paper
NM_000423.3
p.D281N
c.841G>A
1 paper
NM_000423.3
p.T284M
c.851C>T
2 papers
NM_000423.3
p.F189S
c.566T>C
2 papers
NM_000423.3
p.N187_K188del1
c.561_563delTTG
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."