Details for Gene VAPB

GENE NAME VAPB
CHROMOSOME 20
ENSEMBL ID ENSG00000124164
ENTREZ ID 9217
UNIPROT ACCESSION NUMBER O95292
GO MOLECULAR FUNCTION protein homodimerization activity; protein binding; enzyme binding; beta-tubulin binding; protein heterodimerization activity; microtubule binding; cadherin binding; FFAT motif binding
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-1430728; hsa04979; R-HSA-428157; hsa04979; R-HSA-556833; hsa05022; hsa05014; hsa05014; hsa05022; R-HSA-1660661
6 combinations linked to VAPB OLI967; OLI968; OLI970; OLI830; OLI274; OLI279
7 variants linked to VAPB VAPB:c.510G>A, p.Met170Ile; VAPB:p.Val234Ile; VAPB:c.*753C>G, ; VAPB:c.*6182C>T, ; VAPB:c.*1265G>C, ; VAPB:c.*2819A>G, ; VAPB:c.*4520T>C,
1 disease linked to VAPB Amyotrophic lateral sclerosis

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