Varaico: Literature-Extracted Genetic Variants

Gene:KRT8
Variant:p.G421Splc

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.G421Splc
c.1262-40G>C
Surrounding Variants
1 paper
NM_002273.4
p.G429D
c.1286G>A
1 paper
NM_002273.4
p.L430F
c.1288C>T
1 paper
NM_002273.4
p.T431I
c.1292C>T
12 papers
NM_002273.4
p.G434S
c.1300G>A
1 paper
NM_002273.4
p.L439M
c.1315C>A
1 paper
NM_002273.4
p.G440A
c.1319G>C
1 paper
NM_002273.4
p.G446S
c.1336G>A
1 paper
NM_002273.4
p.A447V
c.1340C>T
1 paper
NM_002273.4
p.S451F
c.1352C>T
3 papers
NM_002273.4
p.R454C
c.1360C>T
1 paper
NM_002273.4
p.R454H
c.1361G>A
2 papers
NM_002273.4
p.V461M
c.1381G>A
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