KDELR3 KDEL endoplasmic reticulum protein retention receptor 3
Information
- Symbol
- KDELR3
- Type
- protein-coding
- Description
- KDEL endoplasmic reticulum protein retention receptor 3
- Entrez Gene ID
- 11015
- Genome
- hg19
- Position
- chr22:38,864,083-38,877,640
- Genome
- hg38
- Position
- chr22:38,468,078-38,481,635
- MIM
- 619900 OMIM
- HGNC
- HGNC:6306 HGNC
- Ensembl
- ENSG00000100196 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Uncertain significance | 0 | 26 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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28 |
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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
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MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | ERD23 |
SYNONYM | ERD2L3 |
MIM | 619900 OMIM |
HGNC | HGNC:6306 HGNC |
Ensembl | ENSG00000100196 Ensembl |
AllianceGenome | HGNC:6306 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000409006.3 | hg38 | chr22 | 38,468,078 | 38,481,635 | 13,558 |
ENST00000216014.9 | hg38 | chr22 | 38,468,096 | 38,483,447 | 15,352 |
ENST00000409006.3 | hg19 | chr22 | 38,864,083 | 38,877,640 | 13,558 |
ENST00000216014.9 | hg19 | chr22 | 38,864,101 | 38,879,452 | 15,352 |
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