Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.M1_T5del0

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.M1_T5del0
c.3_14del12
Surrounding Variants
1 paper
NM_001114753.3
p.T5delFs
c.13_14delGT
1 paper
NM_001114753.3
p.R3_T5del0
c.9_14del6
17 papers
NM_001114753.3
p.T5M
c.14C>T
1 paper
NM_001114753.3
p.P7L
c.20C>T
1 paper
NM_001114753.3
p.G4insFs
c.11dupG
1 paper
NM_001114753.3
p.P7H
c.20C>A
1 paper
NM_001114753.3
p.G4_T5insAA
c.10_14ins6
1 paper
NM_001114753.3
p.L8L
c.22C>T
6 papers
NM_001114753.3
p.L8P
c.23T>C
1 paper
NM_001114753.3
p.R3_G4insFs
c.9_10insA
1 paper
NM_001114753.3
p.M1_R3del0
c.3_8del6
1 paper
NM_001114753.3
p.L8L
c.24G>T
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