Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.G214_H215delFs

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.G214_H215delFs
c.640_643del4
Surrounding Variants
1 paper
NM_001114753.3
p.H215delFs
c.644delT
1 paper
NM_001114753.3
p.G214_H215delFs
c.640_644del5
1 paper
NM_001114753.3
p.G214fs
c.640_641fs
2 papers
NM_001114753.3
p.K216E
c.646A>G
2 papers
NM_001114753.3
p.K216Q
c.646A>C
6 papers
NM_001114753.3
p.G214S
c.640G>A
2 papers
NM_001114753.3
p.K216delFs
c.647delT
1 paper
NM_001114753.3
p.G214fs
c.640_641fs
1 paper
NM_001114753.3
p.E217E
c.651G>A
1 paper
NM_001114753.3
p.A218_H219insAA
c.652_656ins6
1 paper
NM_001114753.3
p.A218V
c.653C>T
1 paper
NM_001114753.3
p.A218insFs
c.653_654insC
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