Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.Q177P

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.Q177P
c.530A>C
Surrounding Variants
2 papers
NM_000423.3
p.E178K
c.532G>A
1 paper
NM_000423.3
p.A176D
c.527C>A
1 paper
NM_000423.3
p.V174M
c.520G>A
2 papers
NM_000423.3
p.Q181P
c.542A>C
3 papers
NM_000423.3
p.N173D
c.517A>G
2 papers
NM_000423.3
p.I182N
c.545T>A
3 papers
NM_000423.3
p.N186Y
c.556A>T
5 papers
NM_000423.3
p.N186D
c.556A>G
4 papers
NM_000423.3
p.N186S
c.557A>G
6 papers
NM_000423.3
p.N186K
c.558C>G
6 papers
NM_000423.3
p.N186K
c.558C>A
1 paper
NM_000423.3
p.K188R
c.563A>G
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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."