Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.L194P

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
6 papers
NM_001114753.3
p.L194P
c.581T>C
Surrounding Variants
2 papers
NM_001114753.3
p.L194insFs
c.581_582ins4
1 paper
NM_001114753.3
p.R192_L194delFs
c.574_580del7
2 papers
NM_001114753.3
p.L194insFs
c.580_581ins4
2 papers
NM_001114753.3
p.L194fs
c.580_581fs
1 paper
NM_001114753.3
p.T193_L194delins
c.577_582delinsGTACTCCAG
2 papers
NM_001114753.3
p.T193fs
c.577_578fs
2 papers
NM_001114753.3
p.E195_W196insT
c.583_587ins3
1 paper
NM_001114753.3
p.E195K
c.583G>A
1 paper
NM_001114753.3
p.T193_L194del0
c.577_582del6
1 paper
NM_001114753.3
p.E195fs
c.583_584fs
1 paper
NM_001114753.3
p.T193M
c.578C>T
1 paper
NM_001114753.3
p.T193delins
c.578delinsTGCG
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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."