KRT8 keratin 8

Information
Symbol
KRT8
Type
protein-coding
Description
keratin 8
Entrez Gene ID
3856
Genome
hg19
Position
chr12:53,291,081-53,320,253
Genome
hg38
Position
chr12:52,897,297-52,926,469
MIM
148060 OMIM
HGNC
HGNC:6446 HGNC
Ensembl
ENSG00000170421 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 30
Likely benign 0 30
not provided 0 40
Pathogenic; risk factor 0 2
Uncertain significance 0 54
Ranking
ClinVar
0
0
16
80
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CARD2
SYNONYM CK-8
SYNONYM CK8
SYNONYM CYK8
SYNONYM K2C8
SYNONYM K8
SYNONYM KO
MIM 148060 OMIM
HGNC HGNC:6446 HGNC
Ensembl ENSG00000170421 Ensembl
AllianceGenome HGNC:6446
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000692008.1 hg38 chr12 52,897,191 52,905,076 7,886
ENST00000546897.5 hg38 chr12 52,897,281 52,949,824 52,544
ENST00000619952.2 hg38 chr12 52,946,614 52,949,874 3,261
ENST00000552551.5 hg38 chr12 52,897,187 52,949,842 52,656
ENST00000552150.5 hg38 chr12 52,897,297 52,926,469 29,173
ENST00000293308.11 hg38 chr12 52,897,194 52,906,618 9,425
ENST00000293308.11 hg19 chr12 53,290,978 53,300,402 9,425
ENST00000552551.5 hg19 chr12 53,290,971 53,343,626 52,656
ENST00000546897.5 hg19 chr12 53,291,065 53,343,608 52,544
ENST00000552150.5 hg19 chr12 53,291,081 53,320,253 29,173
ENST00000619952.2 hg19 chr12 53,340,398 53,343,658 3,261
ENST00000692008.1 hg19 chr12 53,290,975 53,298,860 7,886
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