Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.G211D

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
3 papers
NM_001114753.3
p.G211D
c.632G>A
Surrounding Variants
1 paper
NM_001114753.3
p.G211A
c.632G>C
2 papers
NM_001114753.3
p.V212L
c.634G>C
2 papers
NM_001114753.3
p.L209insFs
c.625_626insTG
1 paper
NM_001114753.3
p.L209*
c.626T>A
6 papers
NM_001114753.3
p.G214S
c.640G>A
1 paper
NM_001114753.3
p.G214fs
c.640_641fs
2 papers
NM_001114753.3
p.R197_C207delFs
c.591_619del29
1 paper
NM_001114753.3
p.G214fs
c.640_641fs
3 papers
NM_001114753.3
p.C207del1
c.619_620delGCA
1 paper
NM_001114753.3
p.G214_H215delFs
c.640_643del4
4 papers
NM_001114753.3
p.C207R
c.619T>C
1 paper
NM_001114753.3
p.H215delFs
c.644delT
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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."