Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R199H

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
2 papers
NM_001114753.3
p.R199H
c.596G>A
Surrounding Variants
4 papers
NM_001114753.3
p.R199insFs
c.596_597insCG
1 paper
NM_001114753.3
p.R199fs
c.595_596fs
1 paper
NM_001114753.3
p.R199C
c.595C>T
1 paper
NM_001114753.3
p.P198insFs
c.592dupC
2 papers
NM_001114753.3
p.P198fs
c.592_593fs
1 paper
NM_001114753.3
p.P198delFs
c.593delG
1 paper
NM_001114753.3
p.T200S
c.598A>T
1 paper
NM_001114753.3
p.P198L
c.593C>T
1 paper
NM_001114753.3
p.T200S
c.599C>G
1 paper
NM_001114753.3
p.L194_R197del0
c.580_591del12
1 paper
NM_001114753.3
p.T200delFs
c.599delG
1 paper
NM_001114753.3
p.T193_T200del0
c.579_599del21
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