Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.R93R

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.R93R
c.277C>A
Surrounding Variants
35 papers
NM_001114753.3
p.R93*
c.277C>T
1 paper
NM_001114753.3
p.R93G
c.277C>G
1 paper
NM_001114753.3
p.P92_R93ins6
c.276_277ins18
1 paper
NM_001114753.3
p.P92_R93delins
c.276_277delinsAT
1 paper
NM_001114753.3
p.R93fs
c.277_278fs
1 paper
NM_001114753.3
p.R93L
c.278G>T
2 papers
NM_001114753.3
p.R93Q
c.278G>A
4 papers
NM_001114753.3
p.R93delFs
c.277delG
2 papers
NM_001114753.3
p.R93fs
c.277_278fs
1 paper
NM_001114753.3
p.R93_E94Fs
c.279_280delinsGGAFs
2 papers
NM_001114753.3
p.P92S
c.274C>T
1 paper
NM_001114753.3
p.W91*
c.273G>A
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