Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.P225S

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.P225S
c.673C>T
Surrounding Variants
1 paper
NM_001114753.3
p.P225L
c.674C>T
2 papers
NM_001114753.3
p.G226S
c.676G>A
1 paper
NM_001114753.3
p.G226fs
c.676_677fs
1 paper
NM_001114753.3
p.G226G
c.678C>A
2 papers
NM_001114753.3
p.V223L
c.667G>C
1 paper
NM_001114753.3
p.R222insFs
c.665_666insT
1 paper
NM_001114753.3
p.S228fs
c.682_683fs
1 paper
NM_001114753.3
p.L221L
c.663G>A
16 papers
NM_001114753.3
p.L221P
c.662T>C
1 paper
NM_001114753.3
p.L221Q
c.662T>A
3 papers
NM_001114753.3
p.S228fs
c.682_683fs
1 paper
NM_001114753.3
p.S228delFs
c.683delG
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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."