Details for Gene PTK7

GENE NAME PTK7
CHROMOSOME 6
ENSEMBL ID ENSG00000112655
ENTREZ ID 5754
UNIPROT ACCESSION NUMBER Q13308
GO MOLECULAR FUNCTION ATP binding; protein binding; protein kinase activity
ESSENTIAL IN MOUSE Essential
PATHWAYS
4 combinations linked to PTK7 OLI296; OLI509; OLI293; OLI731
4 variants linked to PTK7 PTK7:c.1703C>G, p.Thr568Arg; PTK7:c.1525C>T, p.Pro509Ser; PTK7:c.1925C>G, p.Pro642Arg; PTK7:c.655A>G, p.Ser219Gly
3 diseases linked to PTK7 Adolescent idiopathic scoliosis; Isolated anencephaly; Isolated spina bifida

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