VEGFC Chromosome 4
Vascular endothelial growth factor C
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What This Gene Does
The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 receptors. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
VEGF family
Locus Type
gene with protein product
Location
4q34.3
Ensembl
ENSG00000150630
Associated Conditions (4)
Inborn genetic diseases
Sarcoma
Squamous cell carcinoma of the head and neck
Lymphatic malformation 4
Key Variants
RS200182587
Conflicting classifications of pathogenicity
Inborn genetic diseases, Sarcoma, Inborn genetic diseases
Health Risk
RS200219952
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370465436
Conflicting classifications of pathogenicity
Health Risk
RS1057524647
Pathogenic
Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck
Health Risk
RS587777566
Pathogenic
Lymphatic malformation 4, Lymphatic malformation 4
Health Risk
RS587777567
Pathogenic
Lymphatic malformation 4, Lymphatic malformation 4
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200182587 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Sarcoma, Inborn genetic diseases |
| RS200219952 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370465436 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1057524647 | Health Risk | Pathogenic | Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck |
| RS587777566 | Health Risk | Pathogenic | Lymphatic malformation 4, Lymphatic malformation 4 |
| RS587777567 | Health Risk | Pathogenic | Lymphatic malformation 4, Lymphatic malformation 4 |