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Gene | JAK2 |
Variant | G993A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 G993A lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). G993A has been demonstrated to occur as a secondary drug resistance mutation in the context of JAK2 fusions in cultured cells (PMID: 34376782), and is not transforming in culture (PMID: 34376782), but has not been fully biochemically characterized and therefore, its effect on Jak2 protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
JAK2 mutant JAK2 G993A |
Transcript | NM_004972.4 |
gDNA | chr9:g.5090830G>C |
cDNA | c.2978G>C |
Protein | p.G993A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194.2 | chr9:g.5090830G>C | c.2978G>C | p.G993A | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5090830G>C | c.2978G>C | p.G993A | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5090830G>C | c.2978G>C | p.G993A | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5090830G>C | c.2978G>C | p.G993A | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5090830G>C | c.2978G>C | p.G993A | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5090830G>C | c.2978G>C | p.G993A | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5090830G>C | c.2978G>C | p.G993A | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5090830G>C | c.2978G>C | p.G993A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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