Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.C53S

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.C53S
c.157T>A
Surrounding Variants
21 papers
NM_001114753.3
p.C53R
c.157T>C
1 paper
NM_001114753.3
p.C53fs
c.157_158fs
1 paper
NM_001114753.3
p.C53delFs
c.157delA
15 papers
NM_001114753.3
p.G52V
c.155G>T
9 papers
NM_001114753.3
p.G52D
c.155G>A
3 papers
NM_001114753.3
p.C53C
c.159C>T
3 papers
NM_001114753.3
p.C53*
c.159C>A
2 papers
NM_001114753.3
p.G52R
c.154G>C
1 paper
NM_001114753.3
p.S50_C53del4
c.148_158del12
1 paper
NM_001114753.3
p.K51_G52insFs
c.153_154insC
1 paper
NM_001114753.3
p.C53_V54delFs
c.157_161del5
1 paper
NM_001114753.3
p.G52_A55Fs
c.155_163delinsCFs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."