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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

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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 chr9:g.5126414_5126415delAGinsCT c.2812_2813delAGinsCT p.R938L RefSeq GRCh38/hg38
NM_001322194.2 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_004972 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_001322195.1 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_001322194.1 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_001322196.2 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_001322204.1 chr9:g.5126414_5126415delAGinsCT c.2812_2813delAGinsCT p.R938L RefSeq GRCh38/hg38
NM_001322204.2 chr9:g.5126414_5126415delAGinsCT c.2812_2813delAGinsCT p.R938L RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090497G>T c.2813G>T p.R938L RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References