GENETIC ENCYCLOPEDIA
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gene: CNTN1

id1272
symbolCNTN1
organismHomo sapiens
full namecontactin 1
summaryThe protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
variant-disease

NM_001843.4(CNTN1):c.1893T>C (p.His631=) AND not specified

NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn) AND not specified

NM_001843.4(CNTN1):c.905T>C (p.Leu302Pro) AND not specified

NM_001843.4(CNTN1):c.1095G>T (p.Leu365Phe) AND not specified

NM_001843.4(CNTN1):c.1442T>C (p.Ile481Thr) AND not provided

... 181 more


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