LYN Chromosome 8
LYN proto-oncogene, Src family tyrosine kinase
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What This Gene Does
This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
Gene Info
Gene Group
"SH2 domain containing|Src family tyrosine kinases"
Locus Type
gene with protein product
Location
8q12.1
Ensembl
ENSG00000254087
Associated Conditions (4)
LYN kinase associated vasculopathy and liver fibrosis syndrome
Autoinflammatory disease
systemic
with vasculitis
Key Variants
RS774195758
Conflicting classifications of pathogenicity
Health Risk
RS1585690632
Pathogenic
LYN kinase associated vasculopathy and liver fibrosis syndrome, Autoinflammatory disease, systemic
Health Risk
RS2486900565
Pathogenic
LYN kinase associated vasculopathy and liver fibrosis syndrome, Autoinflammatory disease, systemic
Health Risk
RS2486900574
Pathogenic
Autoinflammatory disease, systemic, with vasculitis
Health Risk
RS2486900588
Pathogenic
LYN kinase associated vasculopathy and liver fibrosis syndrome, Autoinflammatory disease, systemic
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS774195758 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1585690632 | Health Risk | Pathogenic | LYN kinase associated vasculopathy and liver fibrosis syndrome, Autoinflammatory disease, systemic |
| RS2486900565 | Health Risk | Pathogenic | LYN kinase associated vasculopathy and liver fibrosis syndrome, Autoinflammatory disease, systemic |
| RS2486900574 | Health Risk | Pathogenic | Autoinflammatory disease, systemic, with vasculitis |
| RS2486900588 | Health Risk | Pathogenic | LYN kinase associated vasculopathy and liver fibrosis syndrome, Autoinflammatory disease, systemic |