Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.V98V

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.V98V
c.294C>G
Surrounding Variants
1 paper
NM_001114753.3
p.V98I
c.292G>A
1 paper
NM_001114753.3
p.L97L
c.291G>C
1 paper
NM_001114753.3
p.L99L
c.297C>T
1 paper
NM_001114753.3
p.L99L
c.297C>A
1 paper
NM_001114753.3
p.L97_V98del0
c.289_294del6
1 paper
NM_001114753.3
p.L97R
c.290T>G
1 paper
NM_001114753.3
p.S100fs
c.298_299fs
1 paper
NM_001114753.3
p.S100delFs
c.298delT
1 paper
NM_001114753.3
p.S100fs
c.298_299fs
1 paper
NM_001114753.3
p.S100R
c.300T>A
3 papers
NM_001114753.3
p.S100delFs
c.298_299delCT
1 paper
NM_001114753.3
p.L96P
c.287T>C
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