Ontology highlight
ABSTRACT:
SUBMITTER: Liza R
PROVIDER: S-EPMC6900321 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Bioinformation 20191026 10
JAK1 gene plays a critical role in signalling. Malfunction of JAK1 is linked to numerous human diseases ranging from chronic inflammation to cancers and autoimmune diseases. Genetic variations in JAK1 exhibit deleterious effects on gene function leading to the deregulation of signalling pathways. A comprehensive list of nsSNPs potentially affecting the structure and function of JAK1 gene is not available. We report 3 deleterious nsSNPs (F78L, Q644R and S646F) in the coding region of JAK1 with pr ...[more]