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Gene | JAK3 |
Variant | P132A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 P132A lies within the FERM domain of the Jak3 protein (UniProt.org). P132A demonstrates phosphorylation of Jak3, Stat5, and Erk to similar levels of wild-type Jak3, and is not transforming in culture, however, promotes tumor formation in mouse models (PMID: 21599579), and therefore, its effect on Jak3 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 P132A |
Transcript | NM_000215.4 |
gDNA | chr19:g.17843406G>C |
cDNA | c.394C>G |
Protein | p.P132A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011527991.3 | chr19:g.17843406G>C | c.394C>G | p.P132A | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17843406G>C | c.394C>G | p.P132A | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17843406G>C | c.394C>G | p.P132A | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17843406G>C | c.394C>G | p.P132A | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17843406G>C | c.394C>G | p.P132A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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