Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.S103N

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.S103N
c.308G>A
Surrounding Variants
1 paper
NM_001114753.3
p.V101_S103delFs
c.301_307del7
1 paper
NM_001114753.3
p.L96_N102del7
c.286_305del21
1 paper
NM_001114753.3
p.N102delFs
c.305delT
1 paper
NM_001114753.3
p.V98_N102del0
c.293_304del12
3 papers
NM_001114753.3
p.S103_S104del1
c.309_311delCTG
1 paper
NM_001114753.3
p.S104del1
c.310_311delACT
6 papers
NM_001114753.3
p.V105D
c.314T>A
1 paper
NM_001114753.3
p.S100fs
c.298_299fs
1 paper
NM_001114753.3
p.S100R
c.300T>A
3 papers
NM_001114753.3
p.S100delFs
c.298_299delCT
1 paper
NM_001114753.3
p.S100delFs
c.298delT
1 paper
NM_001114753.3
p.S100fs
c.298_299fs
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