RIPK1 Chromosome 6
Receptor interacting serine/threonine kinase 1
Upload your DNA to see your personal genotypes for variants in RIPK1.
What This Gene Does
This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein plays a role in inflammation and cell death in response to tissue damage, pathogen recognition, and as part of developmental regulation. RIPK1/RIPK3 kinase-mediated necrosis is referred to as necroptosis. Genetic disruption of this gene in mice results in death shortly after birth. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"Ripoptosome|Receptor interacting serine/threonine kinase family"
Locus Type
gene with protein product
Location
6p25.2
Ensembl
ENSG00000137275
Associated Conditions (8)
See cases
Inborn genetic diseases
Inborn error of immunity
IL10-related early-onset inflammatory bowel disease
Immunodeficiency 57
Autoinflammation with episodic fever and lymphadenopathy
RIPK1-related disorder
Hereditary breast ovarian cancer syndrome
Key Variants
RS113605768
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS115041708
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116040763
Conflicting classifications of pathogenicity
Inborn error of immunity, IL10-related early-onset inflammatory bowel disease, Immunodeficiency 57
Health Risk
RS116696494
Conflicting classifications of pathogenicity
Immunodeficiency 57, Autoinflammation with episodic fever and lymphadenopathy, Immunodeficiency 57
Health Risk
RS149432620
Conflicting classifications of pathogenicity
Autoinflammation with episodic fever and lymphadenopathy, Inborn genetic diseases, Immunodeficiency 57
Health Risk
RS184895368
Conflicting classifications of pathogenicity
Immunodeficiency 57, Inborn genetic diseases, Immunodeficiency 57
Health Risk
RS200610530
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2533382987
Conflicting classifications of pathogenicity
Immunodeficiency 57, Immunodeficiency 57
Health Risk
RS2533402705
Conflicting classifications of pathogenicity
Immunodeficiency 57, Immunodeficiency 57
Health Risk
RS34457341
Conflicting classifications of pathogenicity
Immunodeficiency 57, Immunodeficiency 57
Health Risk
RS368085162
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS376022094
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113605768 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS115041708 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS116040763 | Health Risk | Conflicting classifications of pathogenicity | Inborn error of immunity, IL10-related early-onset inflammatory bowel disease, Immunodeficiency 57 |
| RS116696494 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 57, Autoinflammation with episodic fever and lymphadenopathy, Immunodeficiency 57 |
| RS149432620 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammation with episodic fever and lymphadenopathy, Inborn genetic diseases, Immunodeficiency 57 |
| RS184895368 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 57, Inborn genetic diseases, Immunodeficiency 57 |
| RS200610530 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2533382987 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 57, Immunodeficiency 57 |
| RS2533402705 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 57, Immunodeficiency 57 |
| RS34457341 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 57, Immunodeficiency 57 |
| RS368085162 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376022094 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS561115645 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755615425 | Health Risk | Conflicting classifications of pathogenicity | RIPK1-related disorder, Inborn genetic diseases, RIPK1-related disorder |
| RS758993966 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769646757 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1759919516 | Health Risk | Likely pathogenic | — |
| RS2113596006 | Health Risk | Likely pathogenic | — |
| RS2113695996 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1561780980 | Health Risk | Pathogenic | IL10-related early-onset inflammatory bowel disease, Inborn error of immunity, IL10-related early-onset inflammatory bowel disease |
| RS1759158249 | Health Risk | Pathogenic | — |
| RS1759514836 | Health Risk | Pathogenic | Immunodeficiency 57, Immunodeficiency 57 |
| RS1759915032 | Health Risk | Pathogenic | Immunodeficiency 57, Immunodeficiency 57 |
| RS1760720617 | Health Risk | Pathogenic | Autoinflammation with episodic fever and lymphadenopathy, Autoinflammation with episodic fever and lymphadenopathy, Autoinflammation with episodic fever and lymphadenopathy |
| RS1760720924 | Health Risk | Pathogenic | Autoinflammation with episodic fever and lymphadenopathy, Autoinflammation with episodic fever and lymphadenopathy |
| RS2113607375 | Health Risk | Pathogenic | Immunodeficiency 57, Immunodeficiency 57 |
| RS2113716448 | Health Risk | Pathogenic | — |
| RS2113726155 | Health Risk | Pathogenic | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS2533181947 | Health Risk | Pathogenic | — |
| RS2533199446 | Health Risk | Pathogenic | — |
| RS2533347892 | Health Risk | Pathogenic | — |
| RS374657927 | Health Risk | Pathogenic | IL10-related early-onset inflammatory bowel disease, Inborn error of immunity, IL10-related early-onset inflammatory bowel disease |
| RS1561772403 | Health Risk | Pathogenic/Likely pathogenic | IL10-related early-onset inflammatory bowel disease, Inborn error of immunity, Immunodeficiency 57 |