Gene Detail

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Gene Symbol JAK3
Synonyms JAK-3 | JAK3_HUMAN | JAKL | L-JAK | LJAK
Gene Description JAK3, Janus kinase 3, is a non-receptor protein tyrosine kinase involved in the interferon-alpha/beta/gamma pathway and is a member of the JAK/STAT signaling pathway (PMID: 15575979). JAK3 gain of function mutations are commonly observed in T-cell leukemias and lymphomas (PMID: 30079384, PMID: 30250904, PMID: 28284718).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
3718 19 19p13.11 NM_000215 Oncogene (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A728fs frameshift loss of function - predicted JAK3 A728fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 728 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (UniProt.org), A728fs is predicted to lead to a loss of Jak3 protein function.
act mut unknown gain of function JAK3 act mut indicates that this variant results in a gain of function in the Jak3 protein. However, the specific amino acid change has not been identified.
E694fs frameshift loss of function - predicted JAK3 E694fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 694 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (UniProt.org), E694fs is predicted to lead to a loss of Jak3 protein function.
F711fs frameshift loss of function - predicted JAK3 F711fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 711 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (UniProt.org), F711fs is predicted to lead to a loss of Jak3 protein function.
fusion fusion unknown JAK3 fusion indicates a fusion of the JAK3 gene, but the fusion partner is unknown.
I726fs frameshift loss of function - predicted JAK3 I726fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 726 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (UniProt.org), I726fs is predicted to lead to a loss of Jak3 protein function.
inact mut unknown loss of function JAK3 inact mut indicates that this variant results in a loss of function of the Jak3 protein. However, the specific amino acid change has not been identified.
M576fs frameshift loss of function - predicted JAK3 M576fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 576 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (UniProt.org), M576fs is predicted to lead to a loss of Jak3 protein function.
mutant unknown unknown JAK3 mutant indicates an unspecified mutation in the JAK3 gene.
P725fs frameshift loss of function - predicted JAK3 P725fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 725 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (UniProt.org), P725fs is predicted to lead to a loss of Jak3 protein function.
P84fs frameshift loss of function - predicted JAK3 P84fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 84 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), P84fs is predicted to lead to a loss of Jak3 protein function.
Q39fs frameshift loss of function - predicted JAK3 Q39fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 39 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q39fs is predicted to lead to a loss of Jak3 protein function.
rearrange unknown unknown JAK3 rearrangement indicates an unspecified rearrangement of the JAK3 gene.
S577fs frameshift loss of function - predicted JAK3 S577fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 577 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (UniProt.org), S577fs is predicted to lead to a loss of Jak3 protein function.
S703fs frameshift loss of function - predicted JAK3 S703fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 703 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (PMID: 12351625), S703fs is predicted to lead to a loss of Jak3 protein function.
S727fs frameshift loss of function - predicted JAK3 S727fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 727 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (UniProt.org), S727fs is predicted to lead to a loss of Jak3 protein function.
V579fs frameshift loss of function - predicted JAK3 V579fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 579 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of protein kinase domain 1 and the entire protein kinase domain 2 (UniProt.org), V579fs is predicted to lead to a loss of Jak3 protein function.