PSTPIP2 proline-serine-threonine phosphatase interacting protein 2

Information
Symbol
PSTPIP2
Type
protein-coding
Description
proline-serine-threonine phosphatase interacting protein 2
Entrez Gene ID
9050
Genome
hg19
Position
chr18:43,563,502-43,652,226
Genome
hg38
Position
chr18:45,983,536-46,072,260
MIM
616046 OMIM
HGNC
HGNC:9581 HGNC
Ensembl
ENSG00000152229 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 24
Ranking
ClinVar
0
0
0
26
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 MAYP
MIM 616046 OMIM
HGNC HGNC:9581 HGNC
Ensembl ENSG00000152229 Ensembl
AllianceGenome HGNC:9581
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409746.5 hg38 chr18 45,983,536 46,072,260 88,725
ENST00000589328.5 hg38 chr18 45,983,536 46,072,257 88,722
ENST00000589328.5 hg19 chr18 43,563,502 43,652,223 88,722
ENST00000409746.5 hg19 chr18 43,563,502 43,652,226 88,725
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