Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.V64V

ENG

734 papers

RefSeq Summary

This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and...

Pfam Domains

TGFBR3_Naa 45–198UCSCTGFBR3-like, N-terminal domain

Gene Aliases

HGNC Name

endoglin

HGNC Previous Symbols

ORW1; ORW

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001114753.3
p.V64V
c.192C>G
Surrounding Variants
1 paper
NM_001114753.3
p.H65N
c.193C>A
1 paper
NM_001114753.3
p.H65L
c.194A>T
1 paper
NM_001114753.3
p.H65fs
c.193_194fs
1 paper
NM_001114753.3
p.E63D
c.189A>T
2 papers
NM_001114753.3
p.H65_V66insFs
c.195_196insT
8 papers
NM_001114753.3
p.L67F
c.199C>T
1 paper
NM_001114753.3
p.L67V
c.199C>G
1 paper
NM_001114753.3
p.L62V
c.184C>G
1 paper
NM_001114753.3
p.L67L
c.201C>G
1 paper
NM_001114753.3
p.L67ins0
c.199_201dupCTC
1 paper
NM_001114753.3
p.F68V
c.202T>G
1 paper
NM_001114753.3
p.F68insFs
c.203_204insG
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