Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.S180_F181insFs

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.S180_F181insFs
c.540_541insA
Surrounding Variants
1 paper
NM_001114753.3
p.S180fs
c.538_539fs
2 papers
NM_001114753.3
p.L179_S180delFs
c.537_538delAC
1 paper
NM_001114753.3
p.E185*
c.553G>T
1 paper
NM_001114753.3
p.Q176P
c.527A>C
4 papers
NM_001114753.3
p.Q176*
c.526C>T
4 papers
NM_001114753.3
p.A175Splc
c.524-1G>C
4 papers
NM_001114753.3
p.A175Splc
c.524-1G>A
1 paper
NM_001114753.3
p.A186G
c.557C>G
5 papers
NM_001114753.3
p.A175Splc
c.524-2A>G
3 papers
NM_001114753.3
p.Q188insFs
c.562_563insC
2 papers
NM_001114753.3
p.Q188fs
c.562_563fs
2 papers
NM_001114753.3
p.A175Splc
c.524-15C>T
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