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Gene | JAK3 |
Variant | A728fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | JAK3 A728fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 728 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), A728fs is predicted to lead to a loss of Jak3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 inact mut JAK3 A728fs |
Transcript | NM_000215.4 |
gDNA | chr19:g.(17834869_17834870) |
cDNA | c.(2182_2181) |
Protein | p.A728fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215 | chr19:g.17834868_17834869insT | c.2182_2183insA | p.A728fs*6 | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.(17834869_17834870) | c.(2182_2181) | p.A728fs | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.(17834869_17834870) | c.(2182_2181) | p.A728fs | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.(17834869_17834870) | c.(2182_2181) | p.A728fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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