PACSIN3 protein kinase C and casein kinase substrate in neurons 3

Information
Symbol
PACSIN3
Type
protein-coding
Description
protein kinase C and casein kinase substrate in neurons 3
Entrez Gene ID
29763
Genome
hg19
Position
chr11:47,199,073-47,207,985
Genome
hg38
Position
chr11:47,177,522-47,186,434
MIM
606513 OMIM
HGNC
HGNC:8572 HGNC
Ensembl
ENSG00000165912 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 58
Ranking
ClinVar
0
0
0
60
0
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 :
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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 SDPIII
MIM 606513 OMIM
HGNC HGNC:8572 HGNC
Ensembl ENSG00000165912 Ensembl
AllianceGenome HGNC:8572
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000298838.11 hg38 chr11 47,177,522 47,186,434 8,913
ENST00000539589.5 hg38 chr11 47,177,540 47,185,881 8,342
ENST00000298838.11 hg19 chr11 47,199,073 47,207,985 8,913
ENST00000539589.5 hg19 chr11 47,199,091 47,207,432 8,342
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