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Gene JAK2
Variant Y931C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK2 Y931C lies within the protein kinase domain 2 of the Jak2 protein (UniProt.org). Y931C results in increased phosphorylation of Jak2 and Stat5, is transforming in cell culture, and confers resistance to Jak inhibitors (PMID: 21393331, PMID: 26419724).
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 Y931C

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Transcript NM_004972.4
gDNA chr9:g.5090476A>G
cDNA c.2792A>G
Protein p.Y931C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.1 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322195 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322196 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322194 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5090476A>G c.2792A>G p.Y931C RefSeq GRCh38/hg38
NM_004972 chr9:g.5090476A>G c.2792A>G p.Y931C 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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Sorting

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Molecular Profile Protein Effect Treatment Approaches
JAK2 Y931C gain of function JAK Inhibitor (Pan) JAK2 Inhibitor
JAK2 V617F JAK2 Y931C
JAK2 V617F JAK2 Y931C JAK2 S1025C
JAK2 V617F JAK2 Y931C JAK2 Y1045W
JAK2 V617F JAK2 Y931C JAK2 F1061W
JAK2 V617F JAK2 Y931C JAK2 V1075F