PIK3R2 phosphoinositide-3-kinase regulatory subunit 2
Information
- Symbol
- PIK3R2
- Type
- protein-coding
- Description
- phosphoinositide-3-kinase regulatory subunit 2
- Entrez Gene ID
- 5296
- Genome
- hg19
- Position
- chr19:18,263,973-18,281,342
- Genome
- hg38
- Position
- chr19:18,153,163-18,170,532
- MIM
- 603157 OMIM
- HGNC
- HGNC:8980 HGNC
- Ensembl
- ENSG00000105647 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 5 | 16 |
Likely pathogenic | 0 | 18 |
Benign | 0 | 142 |
Likely benign | 0 | 348 |
Conflicting classifications of pathogenicity | 0 | 18 |
not provided | 15 | 0 |
Uncertain significance | 0 | 308 |
Ranking
ClinVar | |
---|---|
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0 |
![]() |
10 |
![]() |
134 |
![]() |
644 |
![]() |
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
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
|
Category | : |
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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 |
Type | ID |
---|---|
SYNONYM | MPPH |
SYNONYM | MPPH1 |
SYNONYM | P85B |
SYNONYM | p85 |
SYNONYM | p85-BETA |
SYNONYM | p85beta |
MIM | 603157 OMIM |
HGNC | HGNC:8980 HGNC |
Ensembl | ENSG00000105647 Ensembl |
AllianceGenome | HGNC:8980 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000222254.13 | hg38 | chr19 | 18,153,163 | 18,170,532 | 17,370 |
ENST00000222254.13 | hg19 | chr19 | 18,263,973 | 18,281,342 | 17,370 |
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