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Gene | JAK2 |
Variant | I682S |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | JAK2 I682S lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). I682S demonstrates increased enzyme activity and decreased structural stability in in vitro assays (PMID: 25940527), and therefore, is predicted to lead to a gain of Jak2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 I682S |
Transcript | NM_004972.4 |
gDNA | chr9:g.5078358T>G |
cDNA | c.2045T>G |
Protein | p.I682S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194 | chr9:g.5078358T>G | c.2045T>G | p.I682S | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5078358T>G | c.2045T>G | p.I682S | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5078358T>G | c.2045T>G | p.I682S | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5078358T>G | c.2045T>G | p.I682S | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5078358T>G | c.2045T>G | p.I682S | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5078358T>G | c.2045T>G | p.I682S | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5078358T>G | c.2045T>G | p.I682S | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5078358T>G | c.2045T>G | p.I682S | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5078358T>G | c.2045T>G | p.I682S | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5078358T>G | c.2045T>G | p.I682S | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5078358T>G | c.2045T>G | p.I682S | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5078358T>G | c.2045T>G | p.I682S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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