Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.P37S

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.P37S
c.109C>T
Surrounding Variants
1 paper
NM_001114753.3
p.P37A
c.109C>G
1 paper
NM_001114753.3
p.V35_G36insFs
c.105_108dup4
1 paper
NM_001114753.3
p.P37insFs
c.109_110ins5
1 paper
NM_001114753.3
p.P37T
c.109C>A
1 paper
NM_001114753.3
p.P37fs
c.109_110fs
1 paper
NM_001114753.3
p.P37L
c.110C>T
1 paper
NM_001114753.3
p.G36fs
c.106_107fs
1 paper
NM_001114753.3
p.G36delFs
c.107delC
1 paper
NM_001114753.3
p.G36V
c.107G>T
1 paper
NM_001114753.3
p.G36D
c.107G>A
1 paper
NM_001114753.3
p.G36R
c.106G>C
1 paper
NM_001114753.3
p.E38K
c.112G>A
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