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Gene | JAK2 |
Variant | M535I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 M535I does not lie within any known functional domains of the Jak2 protein (UniProt.org). The functional effect of M535I is conflicting, as M535I demonstrates signaling activity and ligand-independent growth similar to wild-type Jak2 in one study (PMID: 18755984), but has increased Jak2 kinase activity and is transforming in cell culture in another study (PMID: 19638629), and therefore, its effect on Jak2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 exon12 JAK2 M535I |
Transcript | NM_004972.4 |
gDNA | chr9:g.5070016G>C |
cDNA | c.1605G>C |
Protein | p.M535I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004972 | chr9:g.5070016G>C | c.1605G>C | p.M535I | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5070016G>C | c.1605G>C | p.M535I | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5070016G>C | c.1605G>C | p.M535I | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5070016G>C | c.1605G>C | p.M535I | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5070016G>C | c.1605G>C | p.M535I | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5070016G>C | c.1605G>C | p.M535I | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5070016G>C | c.1605G>C | p.M535I | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5070016G>C | c.1605G>C | p.M535I | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5070016G>C | c.1605G>C | p.M535I | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5070016G>C | c.1605G>C | p.M535I | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5070016G>C | c.1605G>C | p.M535I | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5070016G>C | c.1605G>C | p.M535I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 M535I | unknown |