Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R197_P201delFs

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.R197_P201delFs
c.590_602del13
Surrounding Variants
1 paper
NM_001278138.2
p.A20T
c.58G>A
1 paper
NM_001114753.3
p.L194_T200delFs
c.582_600del19
1 paper
NM_001114753.3
p.P201S
c.601C>T
1 paper
NM_001114753.3
p.W196_A202delFs
c.586_604del19
1 paper
NM_001114753.3
p.T200delFs
c.599delG
1 paper
NM_001114753.3
p.T193_T200del0
c.579_599del21
1 paper
NM_001114753.3
p.T200S
c.599C>G
1 paper
NM_001114753.3
p.T200S
c.598A>T
1 paper
NM_001114753.3
p.R199fs
c.595_596fs
4 papers
NM_001114753.3
p.R199insFs
c.596_597insCG
2 papers
NM_001114753.3
p.R199H
c.596G>A
1 paper
NM_001114753.3
p.R199C
c.595C>T
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."