Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | JAK2 |
Variant | G417S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 G417S lies within the atypical SH2 domain of the Jak2 protein (UniProt.org). G417S has been identified in sequencing studies (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 G417S |
Transcript | NM_004972.4 |
gDNA | chr9:g.5066712G>A |
cDNA | c.1249G>A |
Protein | p.G417S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004972.4 | chr9:g.5066712G>A | c.1249G>A | p.G417S | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5066712G>A | c.1249G>A | p.G417S | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5066712G>A | c.1249G>A | p.G417S | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5066712G>A | c.1249G>A | p.G417S | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5066712G>A | c.1249G>A | p.G417S | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5066712G>A | c.1249G>A | p.G417S | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5066712G>A | c.1249G>A | p.G417S | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5066712G>A | c.1249G>A | p.G417S | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5066712G>A | c.1249G>A | p.G417S | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5066712G>A | c.1249G>A | p.G417S | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5066712G>A | c.1249G>A | p.G417S | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5066712G>A | c.1249G>A | p.G417S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|