CUBN Chromosome 10
Cubilin
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What This Gene Does
Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]
Associated Conditions (18)
Imerslund-Grasbeck syndrome
Inborn genetic diseases
Proteinuria
chronic benign
Imerslund-Grasbeck syndrome type 1
CUBN-related disorder
Thyroid cancer
nonmedullary
1
Adrenocortical carcinoma
hereditary
Melanoma
Ovarian serous cystadenocarcinoma
Clear cell carcinoma of kidney
See cases
Thymoma
Autism spectrum disorder
Chronic kidney disease
Key Variants
RS1037514591
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome, Inborn genetic diseases, Proteinuria
Health Risk
RS11254385
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1, Proteinuria
Health Risk
RS115888073
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1, CUBN-related disorder
Health Risk
RS117620008
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1, CUBN-related disorder
Health Risk
RS117711403
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
Health Risk
RS1266678482
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
Health Risk
RS137892259
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
Health Risk
RS138545198
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome, Inborn genetic diseases
Health Risk
RS138758085
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
Health Risk
RS139051724
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
Health Risk
RS139153235
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
Health Risk
RS139596037
Conflicting classifications of pathogenicity
Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome, CUBN-related disorder
Health Risk
All Variants (256)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS767078847 | Health Risk | Pathogenic/Likely pathogenic | Proteinuria, chronic benign, Imerslund-Grasbeck syndrome type 1 |
| RS769881615 | Health Risk | Pathogenic/Likely pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1, Proteinuria |
| RS770921101 | Health Risk | Pathogenic/Likely pathogenic | Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1, Proteinuria |
| RS774493547 | Health Risk | Pathogenic/Likely pathogenic | Imerslund-Grasbeck syndrome type 1, Proteinuria, chronic benign |
| RS776124003 | Health Risk | Pathogenic/Likely pathogenic | Imerslund-Grasbeck syndrome, Proteinuria, chronic benign |
| RS750303687 | Trait | Affects | Proteinuria, chronic benign, Proteinuria |