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Gene | JAK3 |
Variant | V678L |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK3 V678L lies within the protein kinase domain 1 of the Jak3 protein (UniProt.org). V678L confers a gain of function to the Jak3 protein, as demonstrated by Stat5 activation and transformation of cells in culture (PMID: 26206799). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 act mut JAK3 V678L |
Transcript | NM_000215.4 |
gDNA | chr19:g.17835098C>G |
cDNA | c.2032G>C |
Protein | p.V678L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215 | chr19:g.17835098C>G | c.2032G>C | p.V678L | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17835098C>G | c.2032G>C | p.V678L | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17835098C>G | c.2032G>C | p.V678L | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17835098C>G | c.2032G>C | p.V678L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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