KEAP1 kelch like ECH associated protein 1

Information
Symbol
KEAP1
Type
protein-coding
Description
kelch like ECH associated protein 1
Entrez Gene ID
9817
Genome
hg19
Position
chr19:10,596,802-10,613,572
Genome
hg38
Position
chr19:10,486,126-10,502,896
MIM
606016 OMIM
HGNC
HGNC:23177 HGNC
Ensembl
ENSG00000079999 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 0
Benign 0 6
Likely benign 0 18
not provided 28 8
Uncertain significance 0 40
Ranking
ClinVar
0
0
4
52
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 INrf2
SYNONYM KLHL19
MIM 606016 OMIM
HGNC HGNC:23177 HGNC
Ensembl ENSG00000079999 Ensembl
AllianceGenome HGNC:23177
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000171111.10 hg38 chr19 10,486,125 10,503,356 17,232
ENST00000393623.6 hg38 chr19 10,486,126 10,502,896 16,771
ENST00000171111.10 hg19 chr19 10,596,801 10,614,032 17,232
ENST00000393623.6 hg19 chr19 10,596,802 10,613,572 16,771
KeyValue
strand-
start10,596,795
Gene SymbolKEAP1
Entrez GeneId9,817
Chr Band19p13.2
end10,614,053
chrchr19
Namekelch like ECH associated protein 1
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