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Gene | JAK1 |
Variant | F958L |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | JAK1 F958L lies within protein kinase domain 2 of the Jak1 protein (UniProt.org). F958L results in constitutive Jak1 phosphorylation, increased phosphorylation of Stat5 and Erk in culture, and confers resistance to Jak inhibitors in culture (PMID: 21393331), and therefore, is predicted to lead to a gain of Jak1 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
JAK1 mutant JAK1 act mut JAK1 F958L JAK1 mutant JAK1 F958X JAK1 F958L |
Transcript | NM_002227.4 |
gDNA | chr1:g.64838560A>G |
cDNA | c.2872T>C |
Protein | p.F958L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |