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Gene | JAK2 |
Variant | F439S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 F439S lies within the atypical SH2 domain of the Jak2 protein (UniProt.org). F439S has not been characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 F439S |
Transcript | NM_004972.4 |
gDNA | chr9:g.5066779T>C |
cDNA | c.1316T>C |
Protein | p.F439S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322198.2 | chr9:g.5081821T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5066779T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5066779T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5066779T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322199 | chr9:g.5081821T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322198.1 | chr9:g.5081821T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322199.2 | chr9:g.5081821T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5066779T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5066779T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5066779T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5066779T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5066779T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5066779T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5066779T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5066779T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322198 | chr9:g.5081821T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5066779T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
NM_001322199.1 | chr9:g.5081821T>C | c.1316T>C | p.F439S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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