Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | JAK3 |
Variant | L586_M592del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | JAK3 L586_M592del results in the deletion of seven amino acids in protein kinase domain 1 of the Jak3 protein from amino acids 586 to 592 (PMID: 10629052). L586_M592del results in constitutive hyperphosphorylation but demonstrates failure to mediate IL-2-dependent Stat5 activation in culture (PMID: 10629052), and therefore, is predicted to lead to a loss of Jak3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 inact mut JAK3 L586_M592del |
Transcript | NM_000215.4 |
gDNA | chr19:g.17837141_17837161del21 |
cDNA | c.1756_1776del21 |
Protein | p.L586_M592delLLHGVCM |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047438786.1 | chr19:g.17837141_17837161del21 | c.1756_1776del21 | p.L586_M592delLLHGVCM | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17837141_17837161del21 | c.1756_1776del21 | p.L586_M592del | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17837141_17837161del21 | c.1756_1776del21 | p.L586_M592delLLHGVCM | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17837141_17837161del21 | c.1756_1776del21 | p.L586_M592del | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17837141_17837161del21 | c.1756_1776del21 | p.L586_M592delLLHGVCM | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|