Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.A55delFs

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.A55delFs
c.164delG
Surrounding Variants
3 papers
NM_001114753.3
p.Q56*
c.166C>T
1 paper
NM_001114753.3
p.Q56E
c.166C>G
1 paper
NM_001114753.3
p.G52_A55Fs
c.155_163delinsCFs
1 paper
NM_001114753.3
p.Q56insFs
c.166dupC
1 paper
NM_001114753.3
p.C53_A55delFs
c.159_165del7
1 paper
NM_001114753.3
p.C53_V54delFs
c.157_161del5
1 paper
NM_001114753.3
p.S50_C53del4
c.148_158del12
1 paper
NM_001114753.3
p.A57V
c.170C>T
1 paper
NM_001114753.3
p.A57G
c.170C>G
1 paper
NM_001114753.3
p.A57D
c.170C>A
3 papers
NM_001114753.3
p.C53C
c.159C>T
3 papers
NM_001114753.3
p.C53*
c.159C>A
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