Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.S23Splc

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
2 papers
NM_001114753.3
p.S23Splc
c.67+2T>G
Surrounding Variants
1 paper
NM_001114753.3
p.S23Splc
c.67+2T>C
10 papers
NM_001114753.3
p.S23Splc
c.67+1G>A
1 paper
NM_001114753.3
p.S23Splc
c.67+5G>A
3 papers
NM_001114753.3
p.T22fs
c.64_65fs
1 paper
NM_001114753.3
p.T22K
c.65C>A
7 papers
NM_001114753.3
p.P21delFs
c.63delG
1 paper
NM_001114753.3
p.P21P
c.63C>T
1 paper
NM_001114753.3
p.S20R
c.60C>A
1 paper
NM_001114753.3
p.S20insFs
c.58_59insC
1 paper
NM_001114753.3
p.L19L
c.57C>T
1 paper
NM_001114753.3
p.L19L
c.57C>A
1 paper
NM_001114753.3
p.L19I
c.55C>A
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