Varaico: Literature-Extracted Genetic Variants

Gene:KRT8
Variant:p.E373A

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.E373A
c.1118A>C
Surrounding Variants
1 paper
NM_002273.4
p.E376E
c.1128G>A
1 paper
NM_002273.4
p.R369W
c.1105C>T
1 paper
NM_002273.4
p.A363_A368del0
c.1089_1103del15
7 papers
NM_002273.4
p.V380I
c.1138G>A
1 paper
NM_002273.4
p.D366N
c.1096G>A
1 paper
NM_002273.4
p.K364R
c.1091A>G
1 paper
NM_002273.4
p.R362Q
c.1085G>A
1 paper
NM_002273.4
p.E387K
c.1159G>A
5 papers
NM_002273.4
p.A359T
c.1075G>A
2 papers
NM_002273.4
p.A358V
c.1073C>T
1 paper
NM_002273.4
p.A358T
c.1072G>A
1 paper
NM_002273.4
p.K393E
c.1177A>G
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