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Gene | JAK2 |
Variant | G831R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 G831R does not lie within any known functional domains of the Jak2 protein (UniProt.org). G831R has been demonstrated to occur as a secondary drug resistance mutation (PMID: 22916261), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
JAK2 mutant JAK2 G831R |
Transcript | NM_004972.4 |
gDNA | chr9:g.5081781G>A |
cDNA | c.2491G>A |
Protein | p.G831R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322194.1 | chr9:g.5081781G>A | c.2491G>A | p.G831R | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5081781G>A | c.2491G>A | p.G831R | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5081781G>A | c.2491G>A | p.G831R | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5081781G>A | c.2491G>A | p.G831R | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5081781G>A | c.2491G>A | p.G831R | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5081781G>A | c.2491G>A | p.G831R | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5081781G>A | c.2491G>A | p.G831R | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5081781G>A | c.2491G>A | p.G831R | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5081781G>A | c.2491G>A | p.G831R | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5081781G>A | c.2491G>A | p.G831R | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5081781G>A | c.2491G>A | p.G831R | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5081781G>A | c.2491G>A | p.G831R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 G831R | unknown |