Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.I220fs

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
2 papers
NM_001114753.3
p.I220fs
c.658_659fs
Surrounding Variants
3 papers
NM_001114753.3
p.I220T
c.659T>C
1 paper
NM_001114753.3
p.I220N
c.659T>A
1 paper
NM_001114753.3
p.I220delFs
c.658delT
5 papers
NM_001114753.3
p.H219_I220delFs
c.657_658delTG
1 paper
NM_001114753.3
p.K216_I220del0
c.647_658del12
16 papers
NM_001114753.3
p.L221P
c.662T>C
1 paper
NM_001114753.3
p.L221Q
c.662T>A
1 paper
NM_001114753.3
p.L221L
c.663G>A
1 paper
NM_001114753.3
p.H219Q
c.657C>G
2 papers
NM_001114753.3
p.H219fs
c.655_656fs
1 paper
NM_001114753.3
p.R222insFs
c.665_666insT
1 paper
NM_001114753.3
p.A218insFs
c.653_654insC
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