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Gene | JAK3 |
Variant | D294G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK3 D294G lies within the FERM domain of the Jak3 protein (UniProt.org). D294G has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Jak3 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 D294G |
Transcript | NM_000215.4 |
gDNA | chr19:g.17841743T>C |
cDNA | c.881A>G |
Protein | p.D294G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215 | chr19:g.17841743T>C | c.881A>G | p.D294G | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17841743T>C | c.881A>G | p.D294G | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17841743T>C | c.881A>G | p.D294G | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17841743T>C | c.881A>G | p.D294G | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17841743T>C | c.881A>G | p.D294G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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