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Gene JAK3
Variant L570F
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions JAK3 L570F lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). L570F results in basal and IL-2 induced Stat5 activation similar to wild-type Jak3 in culture (PMID: 31892268), and therefore, is predicted to have no effect on Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 L570F

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Transcript NM_000215.4
gDNA chr19:g.17837205_17837207delCTGinsTTT
cDNA c.1708_1710delCTGinsTTT
Protein p.L570F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011527991.3 chr19:g.17837205_17837207delCTGinsTTT c.1708_1710delCTGinsTTT p.L570F RefSeq GRCh38/hg38
XM_011527990.1 chr19:g.17838052_17838054delCTGinsTTT c.1708_1710delCTGinsTTT p.L570F RefSeq GRCh38/hg38
XM_011527991 chr19:g.17838052_17838054delCAGinsAAA c.1708_1710delCTGinsTTT p.L570F RefSeq GRCh38/hg38
NM_000215 chr19:g.17837205_17837207delCAGinsAAA c.1708_1710delCTGinsTTT p.L570F RefSeq GRCh38/hg38
XM_011527990 chr19:g.17838052_17838054delCAGinsAAA c.1708_1710delCTGinsTTT p.L570F RefSeq GRCh38/hg38
XM_011527991.2 chr19:g.17838052_17838054delCTGinsTTT c.1708_1710delCTGinsTTT p.L570F RefSeq GRCh38/hg38
XM_005259896.3 chr19:g.17838052_17838054delCTGinsTTT c.1708_1710delCTGinsTTT p.L570F RefSeq GRCh38/hg38
XM_005259896 chr19:g.17838052_17838054delCAGinsAAA c.1708_1710delCTGinsTTT p.L570F RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17837205_17837207delCTGinsTTT c.1708_1710delCTGinsTTT p.L570F RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17837205_17837207delCTGinsTTT c.1708_1710delCTGinsTTT p.L570F RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17837205_17837207delCTGinsTTT c.1708_1710delCTGinsTTT p.L570F RefSeq GRCh38/hg38

Filtering

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  • 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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  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
JAK3 L570F no effect - predicted