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Gene | JAK2 |
Variant | R938L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 R938L lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). R938L has been demonstrated to occur as a secondary drug resistance mutation (PMID: 21926964), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
JAK2 mutant JAK2 R938L |
Transcript | NM_004972.4 |
gDNA | chr9:g.5090497G>T |
cDNA | c.2813G>T |
Protein | p.R938L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001322204.2 | chr9:g.5126414_5126415delAGinsCT | c.2812_2813delAGinsCT | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322204.1 | chr9:g.5126414_5126415delAGinsCT | c.2812_2813delAGinsCT | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322196.2 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_004972.3 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_004972.4 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322195 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322196 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322196.1 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322195.2 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322194 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322194.2 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322204 | chr9:g.5126414_5126415delAGinsCT | c.2812_2813delAGinsCT | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322195.1 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322194.1 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_004972 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK2 R938L | unknown | |
JAK2 V617F JAK2 R938L |