Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R153_G154insC

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.R153_G154insC
c.457_461ins3
Surrounding Variants
1 paper
NM_001114753.3
p.G154C
c.460G>T
1 paper
NM_001114753.3
p.G154G
c.462C>T
1 paper
NM_001114753.3
p.G154insFs
c.461_462insG
1 paper
NM_001114753.3
p.G154fs
c.460_461fs
4 papers
NM_001114753.3
p.G154delFs
c.461delC
1 paper
NM_001114753.3
p.A150P
c.448G>C
3 papers
NM_001114753.3
p.I156fs
c.466_467fs
1 paper
NM_001114753.3
p.I156V
c.466A>G
18 papers
NM_001114753.3
p.W149C
c.447G>T
19 papers
NM_001114753.3
p.W149C
c.447G>C
4 papers
NM_001114753.3
p.W149*
c.447G>A
1 paper
NM_001114753.3
p.E148_W149delFs
c.444_445delAC
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