Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.H117_L118delFs

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.H117_L118delFs
c.350_353del4
Surrounding Variants
1 paper
NM_001114753.3
p.L118delFs
c.353delA
1 paper
NM_001114753.3
p.A119A
c.357C>G
1 paper
NM_001114753.3
p.Y120_N121ins3
c.358_362ins9
1 paper
NM_001114753.3
p.Y120fs
c.358_359fs
1 paper
NM_001114753.3
p.Y120Y
c.360C>T
7 papers
NM_001114753.3
p.Y120*
c.360C>G
13 papers
NM_001114753.3
p.Y120*
c.360C>A
5 papers
NM_001114753.3
p.Y120_N121Splc
c.360+1G>C
25 papers
NM_001114753.3
p.Y120_N121Splc
c.360+1G>A
1 paper
NM_001114753.3
p.L116L
c.346C>T
2 papers
NM_001114753.3
p.Y120_N121Splc
c.360+3G>C
1 paper
NM_001114753.3
p.P115delFs
c.344delG
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