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Gene | JAK3 |
Variant | R402H |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | JAK3 R402H lies within the SH2 domain of the Jak3 protein (UniProt.org). R402H demonstrates altered subcellular localization and failure to properly localize the common gamma chain to the cell membrane in culture (PMID: 15143194), and therefore, is predicted to lead to a loss of Jak3 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 inact mut JAK3 R402H |
Transcript | NM_000215.4 |
gDNA | chr19:g.17840279C>T |
cDNA | c.1205G>A |
Protein | p.R402H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047438786.1 | chr19:g.17840279C>T | c.1205G>A | p.R402H | RefSeq | GRCh38/hg38 |
NM_000215.3 | chr19:g.17840279C>T | c.1205G>A | p.R402H | RefSeq | GRCh38/hg38 |
NM_000215.4 | chr19:g.17840279C>T | c.1205G>A | p.R402H | RefSeq | GRCh38/hg38 |
XM_011527991.3 | chr19:g.17840279C>T | c.1205G>A | p.R402H | RefSeq | GRCh38/hg38 |
NM_000215 | chr19:g.17840279C>T | c.1205G>A | p.R402H | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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