Varaico: Literature-Extracted Genetic Variants

Gene:KRT9
Variant:p.N161H

KRT9

160 papers

RefSeq Summary

This gene encodes the type I keratin 9, an intermediate filament chain expressed only in the terminally differentiated epidermis of palms and soles. Mutations in this gene cause epidermolytic palmopla...

Pfam Domains

Filamentaa 152–464UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 9

HGNC Alias Symbols

K9; CK-9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_000226.4
p.N161H
c.481A>C
Surrounding Variants
6 papers
NM_000226.4
p.N161Y
c.481A>T
5 papers
NM_000226.4
p.N161I
c.482A>T
16 papers
NM_000226.4
p.N161S
c.482A>G
5 papers
NM_000226.4
p.N161K
c.483T>G
2 papers
NM_000226.4
p.L160P
c.479T>C
5 papers
NM_000226.4
p.N161K
c.483T>A
1 paper
NM_000226.4
p.S162P
c.484T>C
12 papers
NM_000226.4
p.L160F
c.478C>T
5 papers
NM_000226.4
p.L160V
c.478C>G
1 paper
NM_000226.4
p.S162S
c.486T>C
31 papers
NM_000226.4
p.R163W
c.487C>T
1 paper
NM_000226.4
p.R163L
c.488G>T
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