Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
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, Nov 2023). |
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_001322194 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322204.1 | chr9:g.5126414_5126415delAGinsCT | c.2812_2813delAGinsCT | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322204 | chr9:g.5126414_5126415delAGinsCT | c.2812_2813delAGinsCT | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322195.2 | 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 |
NM_001322195.1 | 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_001322196 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322204.2 | chr9:g.5126414_5126415delAGinsCT | c.2812_2813delAGinsCT | p.R938L | RefSeq | GRCh38/hg38 |
NM_001322195 | 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_001322196.1 | 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_001322196.2 | chr9:g.5090497G>T | c.2813G>T | p.R938L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK2 V617F JAK2 R938L | hematologic cancer | resistant | Ruxolitinib | Preclinical | Actionable | In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 R938L double mutation demonstrated resistance to Jakafi (Ruxolitinib) in culture (PMID: 21926964). | 21926964 |
JAK2 V617F JAK2 R938L | hematologic cancer | resistant | Momelotinib | Preclinical | Actionable | In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 R938L double mutation demonstrated resistance to Momelotinib (CYT387) in culture (PMID: 21926964). | 21926964 |
JAK2 V617F JAK2 R938L | hematologic cancer | resistant | Lestaurtinib | Preclinical | Actionable | In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 R938L double mutation demonstrated resistance to Lestaurtinib (CEP-701) in culture (PMID: 21926964). | 21926964 |
JAK2 V617F JAK2 R938L | hematologic cancer | resistant | Fedratinib | Preclinical - Cell culture | Actionable | In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 R938L double mutation demonstrated resistance to Inrebic (fedratinib) in culture (PMID: 21926964). | 21926964 |
JAK2 V617F JAK2 R938L | hematologic cancer | resistant | AZD1480 | Preclinical | Actionable | In a preclinical study, immune cells expressing the JAK2 V617F and JAK2 R938L double mutation demonstrated resistance to AZD1480 in culture (PMID: 21926964). | 21926964 |