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Gene | JAK3 |
Variant | E694fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | JAK3 E694fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 694 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of the protein kinase 1 domain and the entire protein kinase 2 domain (UniProt.org), E694fs is predicted to lead to a loss of Jak3 protein function. |
Associated Drug Resistance |
Transcript | NM_000215.3 |
gDNA | chr19:g.(17834971_17834972) |
cDNA | c.(2080_2079) |
Protein | p.E694fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215 | chr19:g.17834972_17834973insT | c.2078_2079insA | p.E694fs*10 | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.(17834971_17834972) | c.(2080_2079) | p.E694fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK3 E694fs | loss of function - predicted |