Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.P352L

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.P352L
c.1055C>T
Surrounding Variants
2 papers
NM_001114753.3
p.P352Q
c.1055C>A
1 paper
NM_001114753.3
p.E353K
c.1057G>A
9 papers
NM_001114753.3
p.C350*
c.1050T>A
4 papers
NM_001114753.3
p.L354L
c.1060C>T
1 paper
NM_001114753.3
p.C350_E353del4
c.1048_1058del12
1 paper
NM_001114753.3
p.L354Q
c.1061T>A
1 paper
NM_001114753.3
p.C350insFs
c.1048_1049insTT
1 paper
NM_001114753.3
p.T349fs
c.1045_1046fs
1 paper
NM_001114753.3
p.T349insFs
c.1046_1047insTT
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
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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."