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 | G888A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 G888A lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). G888A results in increased mRNA levels of JAK3, PIM1, PIM2, and PIM3 in a patient sample, but does not support cytokine-independent growth in culture (PMID: 32639993), and therefore, its effect on Jak3 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 G888A |
Transcript | NM_000215.4 |
gDNA | chr19:g.17832536C>G |
cDNA | c.2663G>C |
Protein | p.G888A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005259896.3 | chr19:g.17832665C>G | c.2663G>C | p.G888A | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17832536C>G | c.2663G>C | p.G888A | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17832536C>G | c.2663G>C | p.G888A | RefSeq | GRCh38/hg38 |
XM_005259896 | chr19:g.17832665C>G | c.2663G>C | p.G888A | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17832536C>G | c.2663G>C | p.G888A | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17832536C>G | c.2663G>C | p.G888A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|