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Gene | JAK2 |
Variant | R340Q |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | JAK2 R340Q lies within the FERM domain of the Jak2 protein (UniProt.org). R340Q is not transforming in cell culture as demonstrated by similar proliferation levels as wild-type Jak2 (PMID: 28473624), and therefore, is predicted to have no effect on Jak2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 R340Q |
Transcript | NM_004972.4 |
gDNA | chr9:g.5055751G>A |
cDNA | c.1019G>A |
Protein | p.R340Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |