Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.F68_L69insFs

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.F68_L69insFs
c.204_205insG
Surrounding Variants
1 paper
NM_001114753.3
p.F68L
c.204C>G
1 paper
NM_001114753.3
p.F68delFs
c.203delA
1 paper
NM_001114753.3
p.F68insFs
c.203_204insG
2 papers
NM_001114753.3
p.L69fs
c.205_206fs
1 paper
NM_001114753.3
p.L69V
c.205C>G
1 paper
NM_001114753.3
p.L67ins0
c.199_201dupCTC
1 paper
NM_001114753.3
p.F68V
c.202T>G
2 papers
NM_001114753.3
p.L69delFs
c.205delG
1 paper
NM_001114753.3
p.L69L
c.207G>T
22 papers
NM_001114753.3
p.L69L
c.207G>A
1 paper
NM_001114753.3
p.L67L
c.201C>G
8 papers
NM_001114753.3
p.L67F
c.199C>T
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