KRIT1 Chromosome 7

KRIT1 ankyrin repeat containing
296 variants 296 Health Risk

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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
RS1554527032 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554527169 Health Risk Pathogenic Cavernous hemangioma, Cerebral cavernous malformation, Cavernous hemangioma
RS1554527779 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554527817 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554527922 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554527925 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554528541 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation, Cerebral cavernous malformation
RS1554528662 Health Risk Pathogenic —
RS1554529341 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563211627 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563242500 Health Risk Pathogenic —
RS1563242833 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563243016 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563244618 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563244807 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563245290 Health Risk Pathogenic —
RS1563245596 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563263366 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563263905 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563264113 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563265959 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563266147 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563266658 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563267100 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563275562 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563279045 Health Risk Pathogenic —
RS1563301305 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563302941 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563302951 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563305064 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563305269 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563305588 Health Risk Pathogenic —
RS1563305909 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563313372 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1584800138 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1584873058 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1584881309 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1584881660 Health Risk Pathogenic —
RS1584975743 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1584976350 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1584981589 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1790081665 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1790085048 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1790094262 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1790098079 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1793254982 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1793298143 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1793304372 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1793597181 Health Risk Pathogenic —
RS1795413179 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
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