GENETIC ENCYCLOPEDIA
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gene: LGI1

id9211
symbolLGI1
organismHomo sapiens
full nameleucine rich glioma inactivated 1
summaryThis gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
variant-disease

NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) AND Epilepsy, lateral temporal lobe, autosomal dominant

NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) AND Epilepsy, lateral temporal lobe, autosomal dominant

NM_005097.4(LGI1):c.191C>T (p.Thr64Ile) AND not provided

NM_005097.4(LGI1):c.1106C>G (p.Ser369Cys) AND not provided

NM_005097.4(LGI1):c.1274A>C (p.Asp425Ala) AND not provided

... 169 more


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