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Gene | JAK2 |
Variant | Y62C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 Y62C lies within the FERM domain of the Jak2 protein (UniProt.org). Y62C has not been characterized in the scientific literature and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 Y62C |
Transcript | NM_004972.4 |
gDNA | chr9:g.5022172A>G |
cDNA | c.185A>G |
Protein | p.Y62C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5022172A>G | c.185A>G | p.Y62C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 Y62C | unknown |