Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.A229fs

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.A229fs
c.685_686fs
Surrounding Variants
3 papers
NM_001114753.3
p.S228fs
c.682_683fs
1 paper
NM_001114753.3
p.S228delFs
c.683delG
5 papers
NM_001114753.3
p.A229delFs
c.685delC
4 papers
NM_001114753.3
p.S228_A229delFs
c.682_686del5
1 paper
NM_001114753.3
p.H227_A229insFs
c.680_687dup8
2 papers
NM_001114753.3
p.G230R
c.688G>A
1 paper
NM_001114753.3
p.G230fs
c.688_689fs
1 paper
NM_001114753.3
p.S228fs
c.682_683fs
4 papers
NM_001114753.3
p.G230Splc
c.689+2T>C
1 paper
NM_001114753.3
p.G226G
c.678C>A
2 papers
NM_001114753.3
p.G226S
c.676G>A
1 paper
NM_001114753.3
p.G226fs
c.676_677fs
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