Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.T43P

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.T43P
c.127A>C
Surrounding Variants
1 paper
NM_001114753.3
p.T43A
c.127A>G
1 paper
NM_001114753.3
p.V42fs
c.124_125fs
1 paper
NM_001114753.3
p.T43K
c.128C>A
1 paper
NM_001114753.3
p.V42G
c.125T>G
1 paper
NM_001114753.3
p.G36_T43insFs
c.107_128dup22
1 paper
NM_001114753.3
p.E41E
c.123G>A
2 papers
NM_001114753.3
p.V42_T43delFs
c.125_129del5
1 paper
NM_001114753.3
p.E41insFs
c.121dupG
4 papers
NM_001114753.3
p.E41*
c.121G>T
1 paper
NM_001114753.3
p.E41_V42ins11
c.121_125ins33
2 papers
NM_001114753.3
p.T45fs
c.133_134fs
2 papers
NM_001114753.3
p.G40G
c.120C>T
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