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Gene | JAK3 |
Variant | V678M |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK3 V678M lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). V678M results in constitutive phosphorylation of Jak3, activation of Stat5 and Erk signaling (PMID: 25193870), and is transforming in cell culture (PMID: 25193870, PMID: 35411095). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 act mut JAK3 V678M |
Transcript | NM_000215.4 |
gDNA | chr19:g.17835098C>T |
cDNA | c.2032G>A |
Protein | p.V678M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047438786.1 | chr19:g.17835098C>T | c.2032G>A | p.V678M | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17835098C>T | c.2032G>A | p.V678M | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17835098C>T | c.2032G>A | p.V678M | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17835098C>T | c.2032G>A | p.V678M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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