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Gene JAK2
Variant I1126V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 I1126V does not lie within any known functional domains of the Jak2 protein (UniProt.org). I1126V has been identified in sequencing studies (PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 I1126V

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Transcript NM_004972.4
gDNA chr9:g.5126768A>G
cDNA c.3376A>G
Protein p.I1126V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.1 chr9:g.5126768A>G c.3376A>G p.I1126V RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5126768A>G c.3376A>G p.I1126V RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5126768A>G c.3376A>G p.I1126V RefSeq GRCh38/hg38
NM_004972 chr9:g.5126768A>G c.3376A>G p.I1126V RefSeq GRCh38/hg38
NM_001322194 chr9:g.5126768A>G c.3376A>G p.I1126V RefSeq GRCh38/hg38
NM_001322195 chr9:g.5126768A>G c.3376A>G p.I1126V RefSeq GRCh38/hg38
NM_001322196 chr9:g.5126768A>G c.3376A>G p.I1126V RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5126768A>G c.3376A>G p.I1126V RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5126768A>G c.3376A>G p.I1126V RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5126768A>G c.3376A>G p.I1126V RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5126768A>G c.3376A>G p.I1126V RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5126768A>G c.3376A>G p.I1126V RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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