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Gene JAK2
Variant P1057S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 P1057S lies within protein kinase domain 2 of the Jak2 protein (UniProt.org). P1057S has been demonstrated to occur as a secondary drug resistance mutation (PMID: 22916261), 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 P1057S

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Transcript NM_004972.4
gDNA chr9:g.5123113C>T
cDNA c.3169C>T
Protein p.P1057S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322196.2 chr9:g.5123113C>T c.3169C>T p.P1057S RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5123113C>T c.3169C>T p.P1057S RefSeq GRCh38/hg38
NM_004972 chr9:g.5123113C>T c.3169C>T p.P1057S RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5123113C>T c.3169C>T p.P1057S RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5123113C>T c.3169C>T p.P1057S RefSeq GRCh38/hg38
NM_001322194 chr9:g.5123113C>T c.3169C>T p.P1057S RefSeq GRCh38/hg38
NM_001322195 chr9:g.5123113C>T c.3169C>T p.P1057S RefSeq GRCh38/hg38
NM_001322196 chr9:g.5123113C>T c.3169C>T p.P1057S RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5123113C>T c.3169C>T p.P1057S RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5123113C>T c.3169C>T p.P1057S RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5123113C>T c.3169C>T p.P1057S RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5123113C>T c.3169C>T p.P1057S 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