Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.T73_G74Splc

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.T73_G74Splc
c.220-1G>A
Surrounding Variants
1 paper
NM_001114753.3
p.P75L
c.224C>T
1 paper
NM_001114753.3
p.P75fs
c.223_224fs
1 paper
NM_001114753.3
p.P75P
c.225G>A
1 paper
NM_001114753.3
p.P75delFs
c.224delG
1 paper
NM_001114753.3
p.S76L
c.227C>T
1 paper
NM_001114753.3
p.S76*
c.227C>G
8 papers
NM_001114753.3
p.Q77*
c.229C>T
1 paper
NM_001114753.3
p.Q77K
c.229C>A
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.L78R
c.233T>G
1 paper
NM_001114753.3
p.E79K
c.235G>A
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