Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R197W

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.R197W
c.589C>T
Surrounding Variants
2 papers
NM_001114753.3
p.W196fs
c.586_587fs
1 paper
NM_001114753.3
p.R197P
c.590G>C
12 papers
NM_001114753.3
p.W196*
c.588G>A
3 papers
NM_001114753.3
p.R197Q
c.590G>A
1 paper
NM_001114753.3
p.W196insFs
c.586dupT
1 paper
NM_001114753.3
p.R197fs
c.589_590fs
1 paper
NM_001114753.3
p.W196S
c.587G>C
16 papers
NM_001114753.3
p.W196*
c.587G>A
6 papers
NM_001114753.3
p.W196R
c.586T>C
5 papers
NM_001114753.3
p.W196R
c.586T>A
1 paper
NM_001114753.3
p.E195delFs
c.584_585delCT
1 paper
NM_001114753.3
p.P198fs
c.592_593fs
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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."