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Gene | JAK2 |
Variant | Q959H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 Q959H lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). Q959H is transforming in combination with JAK2 V617F in culture (PMID: 39091915), but has not been individually characterized and therefore, its effect on Jak2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 Q959H |
Transcript | NM_004972.4 |
gDNA | chr9:g.5090561G>T |
cDNA | c.2877G>T |
Protein | p.Q959H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194.2 | chr9:g.5090561G>T | c.2877G>T | p.Q959H | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5090561G>T | c.2877G>T | p.Q959H | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5090561G>T | c.2877G>T | p.Q959H | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5090561G>T | c.2877G>T | p.Q959H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 Q959H | unknown | |
JAK2 V617F JAK2 Q959H JAK2 L983F | ||
JAK2 V617F JAK2 Q959H |