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Gene JAK3
Variant G1057N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK3 G1057N lies within protein kinase domain 2 of the Jak3 protein (UniProt.org). G1057N has not been characterized in the scientific literature and therefore, its effect on Jak3 protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 G1057N

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Transcript NM_000215.4
gDNA chr19:g.17830145_17830146delGGinsAA
cDNA c.3169_3170delGGinsAA
Protein p.G1057N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005259896.3 chr19:g.17830557_17830559delGGGinsAAC c.3169_3171delGGGinsAAC p.G1057N RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17830145_17830146delGGinsAA c.3169_3170delGGinsAA p.G1057N RefSeq GRCh38/hg38
XM_005259896 chr19:g.17830557_17830559delCCCinsGTT c.3169_3171delGGGinsAAC p.G1057N RefSeq GRCh38/hg38
NM_000215 chr19:g.17830145_17830146delCCinsTT c.3169_3170delGGinsAA p.G1057N RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17830145_17830146delGGinsAA c.3169_3170delGGinsAA p.G1057N RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17830145_17830146delGGinsAA c.3169_3170delGGinsAA p.G1057N 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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