KRIT1 Chromosome 7

KRIT1 ankyrin repeat containing
296 variants 296 Health Risk

Upload your DNA to see your personal genotypes for variants in KRIT1.

What This Gene Does
This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"Ankyrin repeat domain containing|FERM domain containing|MicroRNA protein coding host genes|CCM adhesion complex"
Locus Type
gene with protein product
Location
7q21.2
Ensembl
ENSG00000001631
Associated Conditions (11)
Cerebral cavernous malformation
KRIT1-related disorder
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Sarcoma
Ovarian serous cystadenocarcinoma
Angiokeratoma corporis diffusum with arteriovenous fistulas
Cerebral cavernous malformation 1
Cavernous hemangioma
Hereditary cavernous hemangioma of brain
Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
Key Variants
RS1057521140
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, KRIT1-related disorder, Cerebral cavernous malformation
Health Risk
RS138763545
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Inborn genetic diseases, KRIT1-related disorder
Health Risk
RS140396626
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Inborn genetic diseases, Cerebral cavernous malformation
Health Risk
RS140952803
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Inborn genetic diseases, Cerebral cavernous malformation
Health Risk
RS141514714
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cerebral cavernous malformation, KRIT1-related disorder
Health Risk
RS143644029
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Inborn genetic diseases, Cerebral cavernous malformation
Health Risk
RS146328341
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cerebral cavernous malformation, Inborn genetic diseases
Health Risk
RS147568834
Conflicting classifications of pathogenicity
Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas
Health Risk
RS150912644
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas, Inborn genetic diseases
Health Risk
RS1563243075
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Cerebral cavernous malformation
Health Risk
RS182763805
Conflicting classifications of pathogenicity
Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas, Inborn genetic diseases
Health Risk
RS199905288
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cerebral cavernous malformation, Inborn genetic diseases
Health Risk
All Variants (296)
RSID Category Clinical Significance Conditions
RS2131662647 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131676374 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131773689 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535507304 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535514417 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535517960 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535518473 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535518733 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535518758 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535703262 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535704229 Health Risk Pathogenic —
RS2535704686 Health Risk Pathogenic —
RS2535705254 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535705315 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535706411 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535715081 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535715463 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535715547 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535716202 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535716449 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535716674 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535726892 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535727004 Health Risk Pathogenic KRIT1-related disorder, KRIT1-related disorder
RS2535727492 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535818867 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535820956 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535833397 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535871479 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535871507 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535872041 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535873179 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535885308 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535886252 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535886590 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536003797 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation 1
RS2536003869 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536004935 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536005162 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536005244 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536005737 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation 1
RS2536005944 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536012090 Health Risk Pathogenic KRIT1-related disorder, KRIT1-related disorder
RS2536012310 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536012401 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536025886 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536042735 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536042810 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536102793 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536104286 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536106288 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
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