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Gene | JAK3 |
Variant | R172Q |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | JAK3 R172Q lies within the FERM domain of the Jak3 protein (UniProt.org). R172Q confers a gain of function to the Jak3 protein as demonstrated by constitutive autophosphorylation of Jak3 and increased phosphorylation of Stat5a, and is transforming in cultured cells (PMID: 21821710). |
Associated Drug Resistance | |
Category Variants Paths |
JAK3 mutant JAK3 act mut JAK3 R172Q |
Transcript | NM_000215.4 |
gDNA | chr19:g.17843078C>T |
cDNA | c.515G>A |
Protein | p.R172Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |