Varaico: Literature-Extracted Genetic Variants

Gene:KRT8
Variant:p.K483T

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.K483T
c.1448A>C
Surrounding Variants
5 papers
NM_002273.4
p.V480I
c.1438G>A
1 paper
NM_002273.4
p.L473M
c.1417C>A
1 paper
NM_002273.4
p.K472N
c.1416G>T
1 paper
NM_002273.4
p.K472N
c.1416G>C
1 paper
NM_002273.4
p.R469H
c.1406G>A
1 paper
NM_002273.4
p.R469C
c.1405C>T
1 paper
NM_002273.4
p.I466V
c.1396A>G
4 papers
NM_002273.4
p.K464N
c.1392G>T
4 papers
NM_002273.4
p.K464N
c.1392G>C
1 paper
NM_002273.4
p.V461V
c.1383G>T
2 papers
NM_002273.4
p.V461M
c.1381G>A
1 paper
NM_002273.4
p.R454H
c.1361G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."