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
RS1795430058 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1795435288 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1795437460 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1796087833 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1796090545 Health Risk Pathogenic —
RS1796247872 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1798067945 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1798228728 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1798241938 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1798246011 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1798258547 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1799515896 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1799516672 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131087886 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131088062 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131088953 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131089190 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131089744 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131307481 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131308132 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation 1
RS2131308345 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131308944 Health Risk Pathogenic —
RS2131309013 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation, Cerebral cavernous malformation 1
RS2131309179 Health Risk Pathogenic Cerebral cavernous malformation 1, Cerebral cavernous malformation, Cerebral cavernous malformation 1
RS2131309299 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131316175 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131325903 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131326123 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131326255 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131326892 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131437372 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131452462 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131453888 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131454006 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131454682 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131454847 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131455281 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131510638 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131510675 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131511337 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131511467 Health Risk Pathogenic —
RS2131511667 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131525596 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131526298 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131526402 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131527403 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131643055 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131647862 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131660732 Health Risk Pathogenic Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
RS2131662142 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
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