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Gene | JAK2 |
Variant | T246I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | JAK2 T246I lies within the FERM domain of the Jak2 protein (UniProt.org). T246I has been identified in sequencing studies (PMID: 31742675, PMID: 30811597), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
JAK2 mutant JAK2 T246I |
Transcript | NM_004972.4 |
gDNA | chr9:g.5054685C>T |
cDNA | c.737C>T |
Protein | p.T246I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |