Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.S23I

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.S23I
c.68G>T
Surrounding Variants
1 paper
NM_001114753.3
p.S23fs
c.67_68fs
2 papers
NM_001114753.3
p.S23T
c.68G>C
5 papers
NM_001114753.3
p.S23N
c.68G>A
1 paper
NM_001114753.3
p.S23S
c.69T>C
1 paper
NM_001114753.3
p.S23Splc
c.68-1G>C
4 papers
NM_001114753.3
p.S23Splc
c.68-1G>A
1 paper
NM_001114753.3
p.L24F
c.70C>T
1 paper
NM_001114753.3
p.L24I
c.70C>A
2 papers
NM_001114753.3
p.S23Splc
c.68-2A>T
1 paper
NM_001114753.3
p.L24P
c.71T>C
1 paper
NM_001114753.3
p.S23Splc
c.68-3C>G
1 paper
NM_001114753.3
p.S23Splc
c.68-3C>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."