Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.P139_S140insG

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.P139_S140insG
c.415_419ins3
Surrounding Variants
1 paper
NM_001114753.3
p.P139L
c.416C>T
1 paper
NM_001114753.3
p.L138P
c.413T>C
1 paper
NM_001114753.3
p.P131_E137del7
c.391_410del21
1 paper
NM_001114753.3
p.P139fs
c.415_416fs
1 paper
NM_001114753.3
p.P139delFs
c.416delG
1 paper
NM_001114753.3
p.G132_P139del8
c.394_416del24
1 paper
NM_001114753.3
p.S140C
c.419C>G
2 papers
NM_001114753.3
p.E137K
c.409G>A
2 papers
NM_001114753.3
p.T136delFs
c.408delT
1 paper
NM_001114753.3
p.T136del1
c.406_408delTGT
1 paper
NM_001114753.3
p.F141fs
c.421_422fs
1 paper
NM_001114753.3
p.F141delFs
c.422delA
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