Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.L80L

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.L80L
c.238C>T
Surrounding Variants
2 papers
NM_001114753.3
p.L80insFs
c.238_239insG
1 paper
NM_001114753.3
p.L80M
c.238C>A
1 paper
NM_001114753.3
p.E79delFs
c.236_237delCT
1 paper
NM_001114753.3
p.L80R
c.239T>G
2 papers
NM_001114753.3
p.L80P
c.239T>C
1 paper
NM_001114753.3
p.E79K
c.235G>A
1 paper
NM_001114753.3
p.L78R
c.233T>G
2 papers
NM_001114753.3
p.L78L
c.232C>T
1 paper
NM_001114753.3
p.L78V
c.232C>G
1 paper
NM_001114753.3
p.L82fs
c.244_245fs
1 paper
NM_001114753.3
p.L82R
c.245T>G
1 paper
NM_001114753.3
p.L82P
c.245T>C
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