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 | I726fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | JAK3 I726fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 726 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (UniProt.org), I726fs is predicted to lead to a loss of Jak3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 inact mut JAK3 I726fs |
Transcript | NM_000215.4 |
gDNA | chr19:g.(17834875_17834876) |
cDNA | c.(2176_2175) |
Protein | p.I726fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215 | chr19:g.17834878dupG | c.2175dupC | p.I726fs*8 | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.(17834875_17834876) | c.(2176_2175) | p.I726fs | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.(17834875_17834876) | c.(2176_2175) | p.I726fs | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.(17834875_17834876) | c.(2176_2175) | p.I726fs | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|