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gene: JAK1

id3716
symbolJAK1
organismHomo sapiens
full nameJanus kinase 1
summaryThis gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta and interferon-gamma signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
variant-disease

NM_002227.3(JAK1):c.2234C>T (p.Thr745Met) AND not specified

NM_002227.3(JAK1):c.1972G>T (p.Val658Phe) AND Polycythemia vera

NM_002227.3(JAK1):c.1951G>A (p.Val651Met) AND not specified

NM_002227.3(JAK1):c.1078C>T (p.Arg360Trp) AND not specified

NM_002227.3(JAK1):c.2498A>G (p.Asn833Ser) AND not specified

... 36 more


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