Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.S167G

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.S167G
c.499A>G
Surrounding Variants
1 paper
NM_001114753.3
p.S167C
c.499A>T
3 papers
NM_001114753.3
p.Q166fs
c.496_497fs
1 paper
NM_001114753.3
p.S167T
c.500G>C
4 papers
NM_001114753.3
p.Q166Q
c.498G>A
3 papers
NM_001114753.3
p.Q166P
c.497A>C
2 papers
NM_001114753.3
p.Q166insFs
c.497_498insC
4 papers
NM_001114753.3
p.Q166delFs
c.496delG
1 paper
NM_001114753.3
p.P165_Q166delFs
c.495_496delGG
1 paper
NM_001114753.3
p.Q166fs
c.496_497fs
1 paper
NM_001114753.3
p.A159_P165del7
c.475_494del21
8 papers
NM_001114753.3
p.P165L
c.494C>T
1 paper
NM_001114753.3
p.P165R
c.494C>G
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