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Gene | JAK1 |
Variant | P960S |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK1 P960S lies within the protein kinase domain 2 of the Jak1 protein (UniProt.org). P960S results in constitutive Jak1 activation, increased phosphorylation of Stat5 and Erk (PMID: 21393331), transformation of cultured cells (PMID: 20868368), and confers resistance to Jak inhibitors in culture (PMID: 21393331).. |
Associated Drug Resistance | Y |
Category Variants Paths |
JAK1 mutant JAK1 act mut JAK1 P960S JAK1 mutant JAK1 P960X JAK1 P960S |
Transcript | NM_002227.4 |
gDNA | chr1:g.64838554G>A |
cDNA | c.2878C>T |
Protein | p.P960S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |