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Gene | JAK2 |
Variant | S358* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | JAK2 S358* results in a premature truncation of the Jak2 protein at amino acid 358 of 1132 (UniProt.org). Due to the loss of the protein kinase domains (UniProt.org), S358* is predicted to lead to a loss of Jak2 function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 inact mut JAK2 S358* |
Transcript | NM_004972.4 |
gDNA | chr9:g.5064899C>A |
cDNA | c.1073C>A |
Protein | p.S358* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322196.2 | chr9:g.5064899C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5064899C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5064899C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_001322204 | chr9:g.5069931C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5064899C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5064899C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5064899C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5064899C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5064899C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_001322204.1 | chr9:g.5069931C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_001322204.2 | chr9:g.5069931C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5064899C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5064899C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5064899C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5064899C>A | c.1073C>A | p.S358* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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