Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.V10D

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.V10D
c.29T>A
Surrounding Variants
2 papers
NM_001114753.3
p.P7_A9ins1
c.21_26dup6
1 paper
NM_001114753.3
p.A9insFs
c.26_27insCC
2 papers
NM_001114753.3
p.A9insFs
c.26_27ins5
2 papers
NM_001114753.3
p.A9_V10ins2
c.27_28ins6
1 paper
NM_001114753.3
p.A9ins2
c.26_27ins6
1 paper
NM_001114753.3
p.A11S
c.31G>T
1 paper
NM_001114753.3
p.A11P
c.31G>C
3 papers
NM_001114753.3
p.A11T
c.31G>A
2 papers
NM_001114753.3
p.A11D
c.32C>A
1 paper
NM_001114753.3
p.A9S
c.25G>T
1 paper
NM_001114753.3
p.A9ins2
c.25_26ins6
1 paper
NM_001114753.3
p.A9T
c.25G>A
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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."