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Gene JAK3
Variant S577fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK3 S577fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 577 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (UniProt.org), S577fs is predicted to lead to a loss of Jak3 protein function.
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 inact mut JAK3 S577fs

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Transcript NM_000215.4
gDNA chr19:g.(17837186_17837187)
cDNA c.(1729_1728)
Protein p.S577fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17837187dupC c.1728dupG p.S577fs*85 RefSeq GRCh38/hg38
XM_011527991.3 chr19:g.(17837186_17837187) c.(1729_1728) p.S577fs RefSeq GRCh38/hg38
NM_000215.3 chr19:g.(17837186_17837187) c.(1729_1728) p.S577fs RefSeq GRCh38/hg38
NM_000215.4 chr19:g.(17837186_17837187) c.(1729_1728) p.S577fs RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.(17837186_17837187) c.(1729_1728) p.S577fs 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries