Varaico: Literature-Extracted Genetic Variants

Gene:KRT8
Variant:p.T218T

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.T218T
c.654C>T
Surrounding Variants
1 paper
NM_002273.4
p.E220K
c.658G>A
1 paper
NM_002273.4
p.G216R
c.646G>A
1 paper
NM_002273.4
p.L214M
c.640C>A
1 paper
NM_002273.4
p.Q226insFs
c.676dupC
1 paper
NM_002273.4
p.E209D
c.627G>T
1 paper
NM_002273.4
p.E209D
c.627G>C
1 paper
NM_002273.4
p.K207R
c.620A>G
1 paper
NM_002273.4
p.K207Q
c.619A>C
1 paper
NM_002273.4
p.E230_E231Splc
c.690+6T>G
1 paper
NM_002273.4
p.Y204F
c.611A>T
1 paper
NM_002273.4
p.V200G
c.599T>G
1 paper
NM_002273.4
p.K198_D199Splc
c.595-26C>T
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