Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.A55_A57del0

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.A55_A57del0
c.164_169del6
Surrounding Variants
1 paper
NM_001114753.3
p.A57V
c.170C>T
1 paper
NM_001114753.3
p.A57G
c.170C>G
1 paper
NM_001114753.3
p.A57D
c.170C>A
1 paper
NM_001114753.3
p.P58L
c.173C>T
1 paper
NM_001114753.3
p.P58H
c.173C>A
1 paper
NM_001114753.3
p.N59fs
c.175_176fs
1 paper
NM_001114753.3
p.N59Y
c.175A>T
1 paper
NM_001114753.3
p.P58insFs
c.174dupC
1 paper
NM_001114753.3
p.Q56insFs
c.166dupC
1 paper
NM_001114753.3
p.C53_A55delFs
c.159_165del7
3 papers
NM_001114753.3
p.Q56*
c.166C>T
1 paper
NM_001114753.3
p.Q56E
c.166C>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."