Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.Y44_T45delFs

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
2 papers
NM_001114753.3
p.Y44_T45delFs
c.132_133delTA
Surrounding Variants
1 paper
NM_001114753.3
p.T45I
c.134C>T
2 papers
NM_001114753.3
p.T45fs
c.133_134fs
1 paper
NM_001114753.3
p.T46A
c.136A>G
2 papers
NM_001114753.3
p.V42_T43delFs
c.125_129del5
2 papers
NM_001114753.3
p.T46T
c.138T>A
1 paper
NM_001114753.3
p.Y44_T46delFs
c.131_137del7
1 paper
NM_001114753.3
p.S47insFs
c.139_140insG
1 paper
NM_001114753.3
p.G36_T43insFs
c.107_128dup22
1 paper
NM_001114753.3
p.Y44_S47delFs
c.132_139del8
1 paper
NM_001114753.3
p.T43K
c.128C>A
1 paper
NM_001114753.3
p.S47insFs
c.140_141insG
1 paper
NM_001114753.3
p.T43A
c.127A>G
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