Varaico: Literature-Extracted Genetic Variants

Gene:KRT8
Variant:p.R341H

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
24 papers
NM_002273.4
p.R341H
c.1022G>A
Surrounding Variants
3 papers
NM_002273.4
p.R341C
c.1021C>T
2 papers
NM_002273.4
p.E339A
c.1016A>C
1 paper
NM_002273.4
p.I346V
c.1036A>G
1 paper
NM_002273.4
p.A333A
c.999C>T
1 paper
NM_002273.4
p.A333T
c.997G>A
1 paper
NM_002273.4
p.A351V
c.1052C>T
1 paper
NM_002273.4
p.Q327_R328Splc
c.982-9A>G
1 paper
NM_002273.4
p.A358T
c.1072G>A
2 papers
NM_002273.4
p.A358V
c.1073C>T
5 papers
NM_002273.4
p.A359T
c.1075G>A
1 paper
NM_002273.4
p.R362Q
c.1085G>A
1 paper
NM_002273.4
p.K364R
c.1091A>G
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