Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.P346delFs

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.P346delFs
c.1037delG
Surrounding Variants
1 paper
NM_001114753.3
p.P345_P346del1
c.1035_1037delGGA
2 papers
NM_001114753.3
p.D348N
c.1042G>A
1 paper
NM_001114753.3
p.I341_P345del5
c.1021_1034del15
1 paper
NM_001114753.3
p.D348fs
c.1042_1043fs
1 paper
NM_001278138.2
p.D166A
c.497A>C
4 papers
NM_001114753.3
p.D348delFs
c.1042delC
1 paper
NM_001114753.3
p.D348E
c.1044C>G
1 paper
NM_001114753.3
p.D348fs
c.1042_1043fs
1 paper
NM_001114753.3
p.D348E
c.1044C>A
1 paper
NM_001114753.3
p.T344T
c.1032T>A
1 paper
NM_001114753.3
p.T349insFs
c.1046_1047insTT
1 paper
NM_001114753.3
p.T349fs
c.1045_1046fs
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