Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R3C

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
2 papers
NM_001114753.3
p.R3C
c.7C>T
Surrounding Variants
1 paper
NM_001114753.3
p.R3G
c.7C>G
2 papers
NM_001114753.3
p.M1_D2del2
c.1_5del6
1 paper
NM_001114753.3
p.R3L
c.8G>T
1 paper
NM_001114753.3
p.D2D
c.6C>T
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.G4_T5insAA
c.10_14ins6
1 paper
NM_001114753.3
p.D2insFs
c.4_5insAA
1 paper
NM_001114753.3
p.D2H
c.4G>C
4 papers
NM_001114753.3
p.M1I
c.3G>T
1 paper
NM_001114753.3
p.M1insFs
c.2_3insT
2 papers
NM_001114753.3
p.M1fs
c.1_2fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."