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Gene | JAK2 |
Variant | Y931F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 Y931F lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). Y931F results in Epo-induced activation of Jak2 and colony formation similar to wild-type Jak2 in culture (PMID: 18160720), but is transforming in culture (PMID: 26419724), and therefore, its effect on Jak2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 Y931F |
Transcript | NM_004972.4 |
gDNA | chr9:g.5090476A>T |
cDNA | c.2792A>T |
Protein | p.Y931F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194.2 | chr9:g.5090476A>T | c.2792A>T | p.Y931F | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5090476A>T | c.2792A>T | p.Y931F | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5090476A>T | c.2792A>T | p.Y931F | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5090476A>T | c.2792A>T | p.Y931F | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5090476A>T | c.2792A>T | p.Y931F | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5090476A>T | c.2792A>T | p.Y931F | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5090476A>T | c.2792A>T | p.Y931F | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5090476A>T | c.2792A>T | p.Y931F | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5090476A>T | c.2792A>T | p.Y931F | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5090476A>T | c.2792A>T | p.Y931F | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5090476A>T | c.2792A>T | p.Y931F | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5090476A>T | c.2792A>T | p.Y931F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 Y931F | unknown | JAK Inhibitor (Pan) JAK Inhibitor (Pan) - ATP competitive JAK2 Inhibitor JAK2 Inhibitor - ATP competitive |