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Gene | JAK2 |
Variant | L892V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 L892V lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). L892V has been identified in sequencing studies (PMID: 34967151), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 L892V |
Transcript | NM_004972.4 |
gDNA | chr9:g.5089776C>G |
cDNA | c.2674C>G |
Protein | p.L892V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322195.1 | chr9:g.5089776C>G | c.2674C>G | p.L892V | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5089776C>G | c.2674C>G | p.L892V | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5089776C>G | c.2674C>G | p.L892V | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5089776C>G | c.2674C>G | p.L892V | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5089776C>G | c.2674C>G | p.L892V | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5089776C>G | c.2674C>G | p.L892V | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5089776C>G | c.2674C>G | p.L892V | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5089776C>G | c.2674C>G | p.L892V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 L892V | unknown |