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Gene | JAK2 |
Variant | R683T |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | JAK2 R683T lies within protein kinase domain 1 of the Jak2 protein (UniProt.org). R683E results in transformation of cells in culture (PMID: 26419724), and therefore, is predicted to lead to a gain of Jak2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 act mut JAK2 R683T |
Transcript | NM_004972.4 |
gDNA | chr9:g.5078361G>C |
cDNA | c.2048G>C |
Protein | p.R683T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |