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 | Y100A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | JAK3 Y100A lies within the FERM domain of the Jak3 protein (UniProt.org). Y100A confers a loss of function to the Jak3 protein, as demonstrated by a loss of Jak3 kinase activity in cell culture (PMID: 11741532), and the inability to bind the cytokine receptor common gamma-c chains (PMID: 10075926). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 inact mut JAK3 Y100A |
Transcript | NM_000215.4 |
gDNA | chr19:g.17843786_17843787delTAinsGC |
cDNA | c.298_299delTAinsGC |
Protein | p.Y100A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.3 | chr19:g.17843786_17843787delTAinsGC | c.298_299delTAinsGC | p.Y100A | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17843786_17843787delTAinsGC | c.298_299delTAinsGC | p.Y100A | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17843786_17843787delTAinsGC | c.298_299delTAinsGC | p.Y100A | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17843786_17843787delTAinsGC | c.298_299delTAinsGC | p.Y100A | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17843786_17843787delTAinsGC | c.298_299delTAinsGC | p.Y100A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|