Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.C30W

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.C30W
c.90T>G
Surrounding Variants
4 papers
NM_001114753.3
p.C30*
c.90T>A
1 paper
NM_001114753.3
p.C30delFs
c.89delC
3 papers
NM_001114753.3
p.C30R
c.88T>C
1 paper
NM_001114753.3
p.H29Q
c.87T>A
2 papers
NM_001114753.3
p.L32V
c.94C>G
13 papers
NM_001114753.3
p.L32R
c.95T>G
4 papers
NM_001114753.3
p.L32H
c.95T>A
1 paper
NM_001114753.3
p.L32fs
c.94_95fs
5 papers
NM_001114753.3
p.Q33*
c.97C>T
1 paper
NM_001114753.3
p.P34_V35ins11
c.100_104ins33
1 paper
NM_001114753.3
p.E26delFs
c.77delT
1 paper
NM_001114753.3
p.P34H
c.101C>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."