Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.P115delFs

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.P115delFs
c.344delG
Surrounding Variants
1 paper
NM_001114753.3
p.L116L
c.346C>T
1 paper
NM_001114753.3
p.P115S
c.343C>T
1 paper
NM_001114753.3
p.G113delFs
c.338delC
2 papers
NM_001114753.3
p.A111_G113delFs
c.332_338del7
1 paper
NM_001114753.3
p.G113E
c.338G>A
1 paper
NM_001114753.3
p.L112fs
c.334_335fs
1 paper
NM_001114753.3
p.L118delFs
c.353delA
1 paper
NM_001114753.3
p.H117_L118delFs
c.350_353del4
1 paper
NM_001114753.3
p.Q110_L112del0
c.329_334del6
1 paper
NM_001114753.3
p.A119A
c.357C>G
2 papers
NM_001114753.3
p.A111fs
c.331_332fs
1 paper
NM_001114753.3
p.Y120_N121ins3
c.358_362ins9
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