KRTCAP3 keratinocyte associated protein 3

Information
Symbol
KRTCAP3
Type
protein-coding
Description
keratinocyte associated protein 3
Entrez Gene ID
200634
Genome
hg19
Position
chr2:27,665,248-27,667,164
Genome
hg38
Position
chr2:27,442,381-27,444,297
MIM
619261 OMIM
HGNC
HGNC:28943 HGNC
Ensembl
ENSG00000157992 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 12
Benign 0 22
Likely benign 0 138
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 208
Ranking
ClinVar
0
0
86
300
2
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 KCP3
MIM 619261 OMIM
HGNC HGNC:28943 HGNC
Ensembl ENSG00000157992 Ensembl
AllianceGenome HGNC:28943
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000543753.5 hg38 chr2 27,442,366 27,446,481 4,116
ENST00000288873.7 hg38 chr2 27,442,381 27,444,297 1,917
ENST00000407293.5 hg38 chr2 27,442,446 27,444,297 1,852
ENST00000543753.5 hg19 chr2 27,665,233 27,669,348 4,116
ENST00000288873.7 hg19 chr2 27,665,248 27,667,164 1,917
ENST00000407293.5 hg19 chr2 27,665,313 27,667,164 1,852
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