Details for Gene DLC1

GENE NAME DLC1
CHROMOSOME 8
ENSEMBL ID ENSG00000164741
ENTREZ ID 10395
UNIPROT ACCESSION NUMBER Q96QB1
GO MOLECULAR FUNCTION GTPase activator activity; lipid binding; protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-194315; R-HSA-194840; R-HSA-162582
4 combinations linked to DLC1 OLI757; OLI748; OLI762; OLI699
4 variants linked to DLC1 DLC1:c.1697C>A, p.Ser566Tyr; DLC1:c.3895G>A, p.Glu1299Lys; DLC1:c.4007T>G, p.Val1336Gly; DLC1:c.3551A>T, p.Gln1184Leu
1 disease linked to DLC1 Isolated anencephaly

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