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JAK3 V722I
GeneJAK3
Variantmissense
Amino Acid ChangeV722I
DNA Change (Coding Nucleotide)2164G>A
Transcript ID (GRCh37/hg19)ENST00000458235
Codon722
Exon16
Genomic Coordinates (GRCh37/hg19)19:17945696-17945696
Germline/Somatic?Germline
Pertinent Negative In
Tumor TypePrimary Site
AdenocarcinomaLung
See All Pertinent Negatives

Interpretations

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JAK3
Variants
JAK3 V722I
Primary Sites
Lung
Thyroid
Colon
Pancreas
Bladder
Tumor Types
Adenocarcinoma
Papillary Carcinoma
Urothelial Carcinoma
Interpretation

JAK3 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. The JAK3 V722I variant has been reported as a likely benign germline polymorphism (ClinVar, https://preview.ncbi.nlm.nih.gov/clinvar/variation/134573/) and also as an acquired somatic variant in some tumors. It has been reported to be an activating variant of JAK3 and initial in vitro studies suggest that this variant may play a role in the regulation of PD-L1 expression. Also, V722I resulted in constitutive phosphorylation of Jak3 and was transforming in cell culture. Clinical correlation is recommended.

Last updated: 2019-01-22 19:22:47 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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