gene: CNTN1
| id | 1272 |
|---|---|
| symbol | CNTN1 |
| organism | Homo sapiens |
| full name | contactin 1 |
| summary | The 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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