Varaico: Literature-Extracted Genetic Variants

Gene:KRT8
Variant:p.T413M

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.T413M
c.1238C>T
Surrounding Variants
1 paper
NM_002273.4
p.T413A
c.1237A>G
1 paper
NM_002273.4
p.T416A
c.1246A>G
1 paper
NM_002273.4
p.S417G
c.1249A>G
2 papers
NM_002273.4
p.G405A
c.1214G>C
2 papers
NM_002273.4
p.E403*
c.1207G>T
2 papers
NM_002273.4
p.E403K
c.1207G>A
1 paper
NM_002273.4
p.L402L
c.1206G>A
2 papers
NM_002273.4
p.G421Splc
c.1261+20G>A
4 papers
NM_002273.4
p.R401Splc
c.1202+46A>T
2 papers
NM_002273.4
p.R401Splc
c.1202+19G>A
2 papers
NM_002273.4
p.R401Splc
c.1202+1G>A
1 paper
NM_002273.4
p.E398fs
c.1192_1193fs
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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."