Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.E70delFs

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.E70delFs
c.210delC
Surrounding Variants
1 paper
NM_001114753.3
p.E70D
c.210G>T
1 paper
NM_001114753.3
p.F71F
c.213C>T
1 paper
NM_001114753.3
p.F71L
c.213C>G
1 paper
NM_001114753.3
p.F71fs
c.211_212fs
1 paper
NM_001114753.3
p.F71L
c.213C>A
1 paper
NM_001114753.3
p.H65_F71delFs
c.195_211del17
1 paper
NM_001114753.3
p.L69L
c.207G>T
22 papers
NM_001114753.3
p.L69L
c.207G>A
2 papers
NM_001114753.3
p.L69delFs
c.205delG
1 paper
NM_001114753.3
p.P72delFs
c.214_215delGG
2 papers
NM_001114753.3
p.L69fs
c.205_206fs
1 paper
NM_001114753.3
p.L69V
c.205C>G
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