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Gene | JAK3 |
Variant | E639K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | JAK3 E639K lies within protein kinase domain 1 of the Jak3 protein (UniProt.org). E639K confers a loss of function to the Jak3 protein, as demonstrated by failure to mediate IL-2-dependent Stat5 activation in cell culture (PMID: 10629052), and the inability to properly localize to the cell membrane (PMID: 15143194). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 inact mut JAK3 E639K |
Transcript | NM_000215.4 |
gDNA | chr19:g.17835215C>T |
cDNA | c.1915G>A |
Protein | p.E639K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000215.3 | chr19:g.17835215C>T | c.1915G>A | p.E639K | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17835215C>T | c.1915G>A | p.E639K | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17835215C>T | c.1915G>A | p.E639K | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17835215C>T | c.1915G>A | p.E639K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
JAK3 E639K | loss of function |