Varaico: Literature-Extracted Genetic Variants

Gene:KRT8
Variant:p.R233W

KRT8

241 papers

RefSeq Summary

This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of ep...

Pfam Domains

Keratin_2_headaa 3–87UCSCKeratin type II head
Filamentaa 90–401UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 8

HGNC Alias Symbols

CARD2; K8; CK8; CK-8; CYK8; K2C8; KO

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002273.4
p.R233W
c.697C>T
Surrounding Variants
1 paper
NM_002273.4
p.Y267D
c.799T>G
1 paper
NM_002273.4
p.Y267F
c.800A>T
1 paper
NM_002273.4
p.R275W
c.823C>T
1 paper
NM_002273.4
p.A276delFs
c.826delC
1 paper
NM_002273.4
p.A293V
c.878C>T
1 paper
NM_002273.4
p.K295R
c.884A>G
1 paper
NM_002273.4
p.R302C
c.904C>T
1 paper
NM_002273.4
p.K304E
c.910A>G
9 papers
NM_002273.4
p.A319S
c.955G>T
1 paper
NM_002273.4
p.I321T
c.962T>C
1 paper
NM_002273.4
p.E230_E231Splc
c.690+6T>G
1 paper
NM_002273.4
p.Q226insFs
c.676dupC
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