Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.Y120_N121Splc

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
5 papers
NM_001114753.3
p.Y120_N121Splc
c.360+1G>C
Surrounding Variants
25 papers
NM_001114753.3
p.Y120_N121Splc
c.360+1G>A
1 paper
NM_001114753.3
p.Y120Y
c.360C>T
7 papers
NM_001114753.3
p.Y120*
c.360C>G
13 papers
NM_001114753.3
p.Y120*
c.360C>A
2 papers
NM_001114753.3
p.Y120_N121Splc
c.360+3G>C
1 paper
NM_001114753.3
p.Y120_N121ins3
c.358_362ins9
1 paper
NM_001114753.3
p.Y120fs
c.358_359fs
3 papers
NM_001114753.3
p.Y120_N121Splc
c.360+4A>G
1 paper
NM_001114753.3
p.Y120_N121Splc
c.360+5G>T
2 papers
NM_001114753.3
p.Y120_N121Splc
c.360+5G>C
1 paper
NM_001114753.3
p.Y120_N121Splc
c.360+5G>A
1 paper
NM_001114753.3
p.A119A
c.357C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."