Varaico: Literature-Extracted Genetic Variants

Gene:KRT8
Variant:p.I33S

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.I33S
c.98T>G
Surrounding Variants
1 paper
NM_002273.4
p.S34G
c.100A>G
1 paper
NM_002273.4
p.S34T
c.101G>C
1 paper
NM_002273.4
p.R32S
c.94C>A
1 paper
NM_002273.4
p.S35T
c.103T>A
19 papers
NM_002273.4
p.S31A
c.91T>G
1 paper
NM_002273.4
p.S36L
c.107C>T
1 paper
NM_002273.4
p.S39F
c.116C>T
1 paper
NM_002273.4
p.T26T
c.78G>A
1 paper
NM_002273.4
p.T26R
c.77C>G
1 paper
NM_002273.4
p.Y25*
c.75C>G
1 paper
NM_002273.4
p.Y25*
c.75C>A
1 paper
NM_002273.4
p.S24C
c.71C>G
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