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
RS1563306485 Health Risk Likely pathogenic —
RS1563307254 Health Risk Likely pathogenic —
RS1563309967 Health Risk Likely pathogenic —
RS1563321624 Health Risk Likely pathogenic —
RS1584807148 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131087593 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131307878 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131315805 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131525308 Health Risk Likely pathogenic —
RS2535516075 Health Risk Likely pathogenic —
RS2535703286 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535704764 Health Risk Likely pathogenic —
RS2535725121 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535727506 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2536003312 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS374303823 Health Risk Likely pathogenic —
RS770594592 Health Risk Likely pathogenic —
RS776024669 Health Risk Likely pathogenic KRIT1-related disorder, KRIT1-related disorder
RS1057517752 Health Risk Pathogenic —
RS1057517753 Health Risk Pathogenic Cerebral cavernous malformation, Hereditary cavernous hemangioma of brain, Cerebral cavernous malformation
RS1064793348 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1180476377 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation, Cerebral cavernous malformation 1
RS1307397097 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1326827713 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1331502949 Health Risk Pathogenic Cerebral cavernous malformation, KRIT1-related disorder, Cerebral cavernous malformation
RS1348650457 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1350475816 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS137853140 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation, Cerebral cavernous malformation
RS140072597 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation, Cerebral cavernous malformation
RS1418677221 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1490051866 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554490317 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554502838 Health Risk Pathogenic —
RS1554502927 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554503009 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554503116 Health Risk Pathogenic —
RS1554503202 Health Risk Pathogenic —
RS1554503702 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554503705 Health Risk Pathogenic —
RS1554504484 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554504519 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554512658 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554513061 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554513070 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554513911 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554514380 Health Risk Pathogenic Cerebral cavernous malformation, KRIT1-related disorder, Cerebral cavernous malformation
RS1554518386 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554518541 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554518750 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554518783 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
« Prev 1 2 3 4 5 6 Next »
Sign Up to Analyze Your DNA Log In