Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.C350_E353del4

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.C350_E353del4
c.1048_1058del12
Surrounding Variants
4 papers
NM_001114753.3
p.L354L
c.1060C>T
1 paper
NM_001114753.3
p.L354Q
c.1061T>A
1 paper
NM_001114753.3
p.E353K
c.1057G>A
2 papers
NM_001114753.3
p.P352L
c.1055C>T
2 papers
NM_001114753.3
p.P352Q
c.1055C>A
9 papers
NM_001114753.3
p.C350*
c.1050T>A
1 paper
NM_001114753.3
p.L354_M356delFs
c.1061_1068del8
1 paper
NM_001114753.3
p.C350insFs
c.1048_1049insTT
1 paper
NM_001114753.3
p.T349fs
c.1045_1046fs
1 paper
NM_001114753.3
p.T349insFs
c.1046_1047insTT
1 paper
NM_001114753.3
p.I359L
c.1075A>C
1 paper
NM_001114753.3
p.D348E
c.1044C>G
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