Details for Gene LRBA

GENE NAME LRBA
CHROMOSOME 4
ENSEMBL ID None
ENTREZ ID ENSG00000198589
UNIPROT ACCESSION NUMBER P50851
GO MOLECULAR FUNCTION ['molecular_function', 'protein kinase binding']
ESSENTIAL IN MOUSE None
PATHWAYS
3 combinations linked to LRBA OLI1713; OLI1719; OLI025
3 variants linked to LRBA LRBA:c.1570G>A, p.Gly524Ser; LRBA:p.Ile2744Thr; LRBA:p.Asn2364Ser
2 diseases linked to LRBA Common variable immunodeficiency; Primary hemophagocytic lymphohistiocytosis

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