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Gene JAK1
Variant R629_D630del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK1 R629_D630del results in the deletion of two amino acids in protein kinase domain 1 of the Jak1 protein from amino acids 629 to 630 (UniProt.org). R629_D630del is transforming in cell culture (PMID: 20868368), and therefore, is predicted to lead to a gain of Jak1 protein function.
Associated Drug Resistance
Category Variants Paths

JAK1 mutant JAK1 act mut JAK1 R629_D630del

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Transcript NM_002227.4
gDNA chr1:g.64847541_64847546delATCCCT
cDNA c.1886_1891delGGGATA
Protein p.R629_D630delRD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001321852 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321857 chr1:g.64847538_64847543delAATATC c.1885_1890delGATATT p.D629_I630delDI RefSeq GRCh38/hg38
NM_001321856.2 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001320923.1 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321854 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321855.2 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_002227.4 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
XM_047419674.1 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321856 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
XM_047419676.1 chr1:g.64847538_64847543delAATATC c.1885_1890delGATATT p.D629_I630delDI RefSeq GRCh38/hg38
NM_001321852.2 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321853.2 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_002227 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321853.1 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
XM_017001212 chr1:g.64847538_64847543delAATATC c.1885_1890delGATATT p.D629_I630delDI RefSeq GRCh38/hg38
XM_047419677.1 chr1:g.64847538_64847543delAATATC c.1885_1890delGATATT p.D629_I630delDI RefSeq GRCh38/hg38
XM_047419675.1 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321855.1 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001320923 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321857.1 chr1:g.64847538_64847543delAATATC c.1885_1890delGATATT p.D629_I630delDI RefSeq GRCh38/hg38
NM_001321857.2 chr1:g.64847538_64847543delAATATC c.1885_1890delGATATT p.D629_I630delDI RefSeq GRCh38/hg38
NM_001321853 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_002227.3 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321854.1 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321856.1 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321852.1 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001320923.2 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321854.2 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38
NM_001321855 chr1:g.64847541_64847546delATCCCT c.1886_1891delGGGATA p.R629_D630delRD RefSeq GRCh38/hg38

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