Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.N88I

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.N88I
c.263A>T
Surrounding Variants
2 papers
NM_001114753.3
p.N88S
c.263A>G
1 paper
NM_001114753.3
p.N88fs
c.262_263fs
1 paper
NM_001114753.3
p.N88delFs
c.263delT
1 paper
NM_001114753.3
p.Q87_N88delFs
c.261_262delTT
1 paper
NM_001114753.3
p.N88delFs
c.264delA
1 paper
NM_001114753.3
p.G89D
c.266G>A
1 paper
NM_001114753.3
p.K86fs
c.256_257fs
2 papers
NM_001114753.3
p.T90T
c.270C>G
1 paper
NM_001114753.3
p.W91*
c.272G>A
1 paper
NM_001114753.3
p.S85F
c.254C>T
1 paper
NM_001114753.3
p.W91*
c.273G>A
2 papers
NM_001114753.3
p.P92S
c.274C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."