Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.L82delFs

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.L82delFs
c.245_246delGA
Surrounding Variants
6 papers
NM_001114753.3
p.Q83*
c.247C>T
1 paper
NM_001114753.3
p.Q83K
c.247C>A
1 paper
NM_001114753.3
p.L82del1
c.244_246delGAG
1 paper
NM_001114753.3
p.L82R
c.245T>G
1 paper
NM_001114753.3
p.L82P
c.245T>C
5 papers
NM_001114753.3
p.L82H
c.245T>A
1 paper
NM_001114753.3
p.L82fs
c.244_245fs
1 paper
NM_001114753.3
p.S85F
c.254C>T
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.L80L
c.238C>T
2 papers
NM_001114753.3
p.L80insFs
c.238_239insG
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