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Gene JAK2
Variant V881A
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK2 V881A lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). V881A results in increased Jak2, Stat5, Akt, and Erk phosphorylation, and has also been described as a secondary drug resistance mutation in the context of ETV6-JAK2 (PMID: 22916261), and therefore, is predicted to lead to a gain of Jak2 protein function.
Associated Drug Resistance Y
Category Variants Paths

JAK2 mutant JAK2 act mut JAK2 V881A

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Transcript NM_004972.4
gDNA chr9:g.5089744T>C
cDNA c.2642T>C
Protein p.V881A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196 chr9:g.5089744T>C c.2642T>C p.V881A RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5089744T>C c.2642T>C p.V881A RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5089744T>C c.2642T>C p.V881A RefSeq GRCh38/hg38
NM_001322195 chr9:g.5089744T>C c.2642T>C p.V881A RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5089744T>C c.2642T>C p.V881A RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5089744T>C c.2642T>C p.V881A RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5089744T>C c.2642T>C p.V881A RefSeq GRCh38/hg38
NM_001322194 chr9:g.5089744T>C c.2642T>C p.V881A RefSeq GRCh38/hg38
NM_004972 chr9:g.5089744T>C c.2642T>C p.V881A RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5089744T>C c.2642T>C p.V881A RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5089744T>C c.2642T>C p.V881A RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5089744T>C c.2642T>C p.V881A RefSeq GRCh38/hg38

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